View transcript variants

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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic)     

DB-ID     

Gene or Locus mapped in study     

dbSNP ID     

IGV     

1000 Genomes     

Population     

Pubmed Reference     

Variant remarks     

Risk allele     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTA2 NM_001141945.1 10 Unknown g.90749256G>A ACTA2_000001 FAS rs2234767 NA 1000G KOREAN Jeong et al.(2010) CANDIDATE A Ankita ./. - c.-24+1440C>T r.(=) p.(=)
AHR NM_001621.4 7 Unknown g.17379110G>A AHR_000001 AHR rs2066853 IGV 1000G HAN CHINESE Wang et al.(2012) CANDIDATE A Ankita ./. - c.1661G>A - -
APEX1 NM_001641.3 14 Unknown g.20925154T>G APEX1_000001 APEX1 rs3136820 NA 1000G CHINESE Wei et al.(2013) CANDIDATE - Ankita ./. - c.444T>G r.(?) p.(Asp148Glu)
ATXN2 NM_002973.3 12 Unknown g.111904371T>A ATXN2_000001 SH2B3 rs4766578 NA 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita ./. - c.3317-1852A>T r.(=) p.(=)
AUTS2 NM_015570.2 7 Unknown g.70020160T>C AUTS2_000001 7q11 rs734930 IGV 1000G CAUCASIAN/EUROPEAN;MULTIPLE POPULATIONS(META-ANALYSIS) Jin et al.(2009);Smith et al.(2010) CANDIDATE G;- Ankita ./. - c.690+119393T>C r.(=) p.(=)
BACH2 NM_021813.2 6 Unknown g.90957463C>T BACH2_000001 BACH2 rs3757247 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita ./. - c.-275+4769G>A r.(=) p.(=)
BACH2 NM_021813.2 6 Parent #2 g.90976768G>A BACH2_000002 - rs72928038 - - - - - - Ankita ./. - c.-353+4800C>T - -
BCHE NM_000055.2 3 Parent #2 g.165491280C>T BCHE_000002 - rs1803274 - - - - - - Ankita ./. - - - -
BCHE NM_000055.2 3 Parent #2 g.165505177A>G BCHE_000001 - rs1355538 - - - - - - Ankita ./. - - - -
BLOC1S5-TXNDC5 NR_037616.1 6 Unknown g.7881931T>C TXNDC5_000003 TXNDC5 rs1043784 IGV 1000G KOREAN Jeong et al.(2009) CANDIDATE - Ankita ./. - n.2904A>G - -
BLOC1S5-TXNDC5 NR_037616.1 6 Unknown g.7882205G>A TXNDC5_000002 TXNDC5 rs7764128 NA 1000G KOREAN Jeong et al.(2009) CANDIDATE - Ankita ./. - n.2630C>T - -
BLOC1S5-TXNDC5 NR_037616.1 6 Unknown g.7883073C>T TXNDC5_000001 TXNDC5 rs8643 NA 1000G KOREAN Jeong et al.(2009) CANDIDATE - Ankita ./. - n.1762G>A - -
BMP6 NM_001718.4 6 Unknown g.7881931T>C TXNDC5_000003 TXNDC5 rs1043784 IGV 1000G KOREAN Jeong et al.(2009) CANDIDATE - Ankita ./. - c.*1355T>C r.(=) p.(=)
C12orf10 NM_021640.3 12 Unknown g.53693403C>G C12orf10_000001 MYG1 rs1465073 NA 1000G INDIAN;CAUCASIAN/EUROPEAN Dwivedi et al.(2013);Philips et al.(2010) EXPRESSION -;G Ankita ./. - c.-119C>G r.(=) p.(=)
C1QTNF6 NM_182486.1 22 Unknown g.37581485C>A C1QTNF6_000001 C1QTNF6 rs229527 IGV 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita ./. - c.62G>T r.(?) p.(Gly21Val)
C9orf3 NM_032823.5 9 Unknown g.97689045G>A C9orf3_000001 9q22 rs4744411 NA 1000G CAUCASIAN/EUROPEAN;NA Jin et al.(2009);Smith et al.(2010) CANDIDATE A;- Ankita ./. - c.1365-28414G>A - -
CASP7 NM_033338.5 10 Unknown g.115481018C>T CASP7_000002 CASP7 rs3814231 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita ./. - c.346+91C>T r.(=) p.(=)
CASP7 NM_033338.5 10 Unknown g.115489589T>C CASP7_000001 CASP7 rs4353229 NA 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita ./. - c.*290T>C r.(=) p.(=)
CASP7 NM_033338.5 10 Parent #2 g.115488331G>A CASP7_000003 - rs12771452 - - - - - - Ankita ./. - c.782-739G>A r.(=) p.(=)
CAT NM_001752.3 11 Unknown g.34482908C>T CAT_000002 CAT rs769217 IGV 1000G MULTIPLE POPULATIONS(META-ANALYSIS);EUROPEAN;KOREAN;CAUCASIAN/EUROPEAN Lv et al.(2010);Gavalas et al.(2006);Park et al.(2006);Casp et al.(2002) CANDIDATE T;T;-;- Ankita ./. - c.1167C>T r.(=) p.(=)
CAT NM_001752.3 11 Unknown g.34460472A>T CAT_000001 CAT rs7943316 IGV 1000G CHINESE;KOREAN Liu et al.(2010);Park et al.(2006) CANDIDATE T;- Ankita ./. - c.-89A>T r.(=) p.(=)
CDH1 NM_004360.3 16 Unknown g.68839302T>C CDH1_000001 CDH1 rs10431924 IGV 1000G NA Tarlé et al.(2015) CANDIDATE - Ankita ./. - c.388-3025T>C r.(=) p.(=)
CDK5RAP1 NM_016408.3 20 Unknown g.31981849T>C CDK5RAP1_000002 CDK5RAP1 rs291700 IGV 1000G KOREAN Shin et al.(2012) CANDIDATE - Ankita ./. - c.432A>G r.(=) p.(=)
CDK5RAP1 NM_016408.3 20 Unknown g.31974395G>A CDK5RAP1_000001 CDK5RAP1 rs158676 IGV 1000G KOREAN Shin et al.(2012) CANDIDATE - Ankita ./. - c.755+734C>T r.(=) p.(=)
CLEC11A NM_002975.2 19 Unknown g.51228746C>T CLEC11A_000001 CLEC11A rs13866 NA 1000G TAIWAN Lan et al.(2009) CANDIDATE T Ankita ./. - c.*22C>T r.(=) p.(=)
COMT NM_000754.3 22 Unknown g.19951271G>A COMT_000001 COMT rs4680 IGV 1000G CHINESE;NA Li et al.(2009);Türsen et al.(2002) CANDIDATE A;- Ankita ./. - c.472G>A r.(?) p.(Val158Met)
CTLA4 NM_005214.4 2 Unknown g.204732714A>G CTLA4_000001 CTLA4 rs231775 IGV 1000G INDIAN;EUROPEAN;ROMANIAN,CAUCASIAN Dwivedi et al.(2011);Birlea et al.(2010);Birlea et al.(2009) CANDIDATE -;-;G Ankita ./. - c.49A>G r.(?) p.(Thr17Ala)
CYP2C9 NM_000771.3 10 Unknown g.96741053_96741054del CYP2C9_000001 CYP2C9*3 rs1057910 NA 1000G SAUDI Alzolibani et al.(2014) CANDIDATE - Ankita ./. - c.1075_1076del r.(?) p.(Ile359*)
DDR1 NM_013994.2 6 Unknown g.30855251G>A DDR1_000002 DDR1 rs4618569 NA 1000G BRAZILIAN Silva et al.(2010) CANDIDATE T Ankita ./. - c.-1256G>A r.(=) p.(=)
DDR1 NM_013994.2 6 Unknown g.30865204A>C DDR1_000001 DDR1 rs2267641 NA 1000G BRAZILIAN Silva et al.(2010) CANDIDATE C Ankita ./. - c.2064A>C r.(=) p.(=)
DNAH5 NM_001369.2 5 Unknown g.13717471T>C DNAH5_000001 DNAH5 rs2277046 NA 1000G KOREAN Cheong et al.(2013) GWAS - Ankita ./. - c.12658A>G r.(?) p.(Thr4220Ala)
ESR1 NM_000125.3 6 Unknown g.152163335T>C ESR1_000001 ESR1 rs2234693 NA 1000G KOREAN Jin et al.(2004) CANDIDATE - Ankita ./. - c.453-397T>C r.(=) p.(=)
FANCA NM_000135.2 16 Unknown g.89818089A>G FANCA_000001 MC1R rs9926296 NA 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita ./. - c.3066+457T>C r.(=) p.(=)
FOXO3 NM_001455.3 6 Unknown g.109003321T>C FOXO3_000002 FOXO3A rs4946936 NA 1000G NA Ozel et al.(2013) EXPRESSION - Ankita ./. - c.*2326T>C r.(=) p.(=)
FOXO3 NM_001455.3 6 Unknown g.108888593C>G FOXO3_000001 FOXO3A rs2253310 NA 1000G NA Ozel et al.(2013) EXPRESSION - Ankita ./. - c.621+5561C>G r.(=) p.(=)
FOXP1 NM_032682.5 3 Unknown g.71573135T>G FOXP1_000001 FOXP1 rs17008723 IGV 1000G EUROPEAN Jin et al.(2010) CANDIDATE G Ankita ./. - c.-297-30429A>C r.(=) p.(=)
FOXP1 NM_032682.5 3 Parent #2 g.71557945C>A FOXP1_000002 - rs34346645 - - - - - - Ankita ./. - c.-297-15239G>T r.(=) p.(=)
FOXP3 NM_014009.3 X Unknown g.49118461T>C FOXP3_000002 FOXP3 rs3761547 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita ./. - c.-23+2662A>G - -
FOXP3 NM_014009.3 X Unknown g.49118241T>G FOXP3_000001 FOXP3 rs3761548 IGV 1000G INDIAN;HAN CHINESE Parveen et al.(2013);Song et al.(2013) CANDIDATE A;A Ankita ./. - c.-23+2882A>C - -
FOXP3 NM_014009.3 X Unknown g.49115886T>C FOXP3_000003 FOXP3 rs2232365 NA 1000G HAN CHINESE Song et al.(2013) CANDIDATE G Ankita ./. - c.-22-902A>G r.(=) p.(=)
GAGE1 NM_001040663.2 X Unknown g.49370778C>A GAGE1_000001 FOXP3 rs5906843 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita ./. - c.*160C>A r.(=) p.(=)
GAGE10 NM_001098413.2 X Unknown g.49168260A>T GAGE10_000002 FOXP3 rs11798415 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita ./. - c.203-5382A>T r.(=) p.(=)
GAGE10 NM_001098413.2 X Unknown g.49167548A>G GAGE10_000001 FOXP3 rs5906777 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita ./. - c.202+5545A>G r.(=) p.(=)
GAGE10 NM_001098413.2 X Unknown g.49164880T>C GAGE10_000003 FOXP3 rs4824755 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita ./. - c.202+2877T>C r.(=) p.(=)
GPX1 NM_000581.2 3 Parent #2 g.49395695A>G GPX1_000002 - rs4991448 - - - - - - Ankita ./. - - - -
GPX1 NM_000581.2 3 Parent #2 g.49395698C>G GPX1_000001 - rs8179169 - - - - - - Ankita ./. - - - -
GSTP1 NM_000852.3 11 Unknown g.67353579C>T GSTP1_000001 GSTP1 rs1138272 NA 1000G RUSSIAN Minashkin et al.(2012) CANDIDATE T Ankita ./. - c.341C>T r.(?) p.(Ala114Val)
GZMB NM_004131.4 14 Unknown g.25102160C>T GZMB_000002 GZMB rs8192917 IGV 1000G EUROPEAN;EUROPEAN Jin et al.(2010);Ferrara et al.(2013) GWAS, CANDIDATE G;C Ankita ./. - c.164G>A r.(?) p.(Arg55Gln)
GZMB NM_004131.4 14 Unknown g.25103414G>A GZMB_000001 GZMB rs2273844 IGV 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita ./. - c.-48C>T r.(=) p.(=)
GZMB NM_004131.4 14 Unknown g.25101629T>C GZMB_000004 GZMB rs10909625 NA 1000G EUROPEAN Ferrara et al.(2013) CANDIDATE C Ankita ./. - c.240A>G r.(=) p.(=)
GZMB NM_004131.4 14 Unknown g.25100348T>A GZMB_000003 GZMB rs185979723 NA 1000G EUROPEAN Ferrara et al.(2013) CANDIDATE - Ankita ./. - c.673A>T r.(?) p.(Met225Leu)
HCG9 NR_028032.1 6 Unknown g.29943067G>A HCG9_000001 HCG9 rs6904029 IGV 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita ./. - n.176G>A - -
HCG9 NR_028032.1 6 Unknown g.29944158T>C HCG9_000002 HCG9 rs3823375 NA 1000G JAPANESE;EUROPEAN Jin et al.(2015);Jin et al.(2010) CANDIDATE, GWAS C;C Ankita ./. - n.403+864T>C - -
HERC2 NM_004667.5 15 Unknown g.28356859C>T HERC2_000002 OCA2-HERC2 rs1129038 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita ./. - c.*50G>A r.(=) p.(=)
HERC2 NM_004667.5 15 Unknown g.28365618A>G HERC2_000001 OCA2-HERC2 rs12913832 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita ./. - c.13272+874T>C r.(=) p.(=)
HERC2 NM_004667.5 15 Parent #2 g.28535266A>C HERC2_000003 - rs1635168 - - - - - - Ankita ./. - c.322+2768T>G r.(=) p.(=)
ICA1 NM_004968.3 7 Unknown g.8176301G>A ICA1_000001 ICA1 rs2192346 NA 1000G EUROPEAN Jin et al.(2010) CANDIDATE - Ankita ./. - c.1060+2169C>T r.(=) p.(=)
IFIH1 NM_022168.3 2 Unknown g.163124051C>T IFIH1_000001 IFIH1 rs1990760 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita ./. - c.2836G>A r.(?) p.(Ala946Thr)
IFIH1 NM_022168.3 2 Parent #2 g.163124637T>C IFIH1_000003 - rs35667974 - - - - - - Ankita ./. - c.2767A>G r.(?) p.(Ile923Val)
IFIH1 NM_022168.3 2 Parent #2 g.163128824T>C IFIH1_000002 - rs3747517 - - - - - - Ankita ./. - c.2528A>G r.(?) p.(His843Arg)
IFNE NM_176891.4 9 Unknown g.21481483G>A IFNE_000001 IFNE rs2039381 IGV 1000G KOREAN Cho et al.(2013) CANDIDATE T Ankita ./. - c.211C>T - -
IFNG NM_000619.2 12 Unknown g.68552522T>A IFNG_000001 IFNG rs2430561 NA 1000G NA;IRANIAN Dwivedi et al.(2013);Namain et al.(2008) EXPRESSION, CANDIDATE -;A Ankita ./. - c.115-483A>T r.(=) p.(=)
IKZF4 NM_022465.3 12 Unknown g.56412487T>G IKZF4_000002 IKZF4 rs1701704 IGV 1000G EUROPEAN;EUROPEAN Jin et al.(2011);Jin et al.(2010) GWAS, CANDIDATE T;- Ankita ./. - c.-2791T>G r.(=) p.(=)
IKZF4 NM_022465.3 12 Unknown g.56416928A>C IKZF4_000001 IKZF4 rs2456973 NA 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita ./. - c.88-527A>C r.(=) p.(=)
IL2RA NM_000417.2 10 Unknown g.6100725G>A IL2RA_000001 IL2RA rs3134883 NA 1000G HAN CHINESE Tang et al.(2013) GWAS T Ankita ./. - c.64+3326C>T - -
IL2RA NM_000417.2 10 Unknown g.6098824T>C IL2RA_000002 IL2RA rs706779 NA 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita ./. - c.64+5227A>G r.(=) p.(=)
KITLG NM_003994.5 12 Unknown g.88942980G>A KITLG_000001 KITLG rs11104947 NA 1000G TAIWANIAN Lan et al.(2009) CANDIDATE A Ankita ./. - c.16-3338C>T r.(=) p.(=)
LPP NM_005578.3 3 Unknown g.188087628C>T LPP_000005 LPP rs9851967 IGV 1000G HAN CHINESE Tang et al.(2013) GWAS T Ankita ./. - c.-9-36272C>T r.(=) p.(=)
LPP NM_005578.3 3 Unknown g.188112554C>A LPP_000001 LPP rs1464510 NA 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita ./. - c.-9-11346C>A r.(=) p.(=)
LPP NM_005578.3 3 Unknown g.188089254C>T LPP_000004 LPP rs13076312 IGV 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita ./. - c.-9-34646C>T r.(=) p.(=)
LPP NM_005578.3 3 Unknown g.188114589G>T LPP_000002 LPP rs13091753 IGV 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita ./. - c.-9-9311G>T r.(=) p.(=)
LPP NM_005578.3 3 Unknown g.188124354C>A LPP_000003 LPP rs1559810 IGV 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita ./. - c.193+253C>A r.(=) p.(=)
LTA NM_001159740.2 6 Unknown g.31540071G>A LTA_000001 LTA rs1800683 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita ./. - c.-18G>A - -
LTA NM_001159740.2 6 Unknown g.31540313A>G LTA_000002 TNFB rs909253 IGV 1000G NA;SAUDI Laddha et al.(2013);Al et al.(2013) EXPRESSION, CANDIDATE -;G Ankita ./. - c.-9-198A>G r.(=) p.(=)
LTA NM_001159740.2 6 Unknown g.31540784C>A LTA_000003 TNFB rs1041981 IGV 1000G NA Laddha et al.(2013) EXPRESSION - Ankita ./. - c.179C>A r.(?) p.(Thr60Asn)
MBL2 NM_000242.2 10 Unknown g.54531235C>T MBL2_000001 MBL2 rs1800450 IGV 1000G NA Onay et al.(2007) CANDIDATE - Ankita ./. - c.161G>A r.(?) p.(Gly54Asp)
MC1R NM_002386.3 16 Unknown g.89986144C>T MC1R_000001 MC1R rs1805008 IGV 1000G CAUCASIAN/EUROPEAN Széll et al.(2008) CANDIDATE - Ankita ./. - c.478C>T r.(?) p.(Arg160Trp)
MC1R NM_002386.3 16 Unknown g.89985940G>A MC1R_000002 MC1R rs2228479 IGV 1000G KOREAN Na et al.(2003) CANDIDATE A Ankita ./. - c.274G>A r.(?) p.(Val92Met)
MC1R NM_002386.3 16 Parent #2 g.89985441A>T MC1R_000004 - rs3212363 - - - - - - Ankita ./. - c.-226A>T r.(=) p.(=)
MC1R NM_002386.3 16 Parent #2 g.89986608A>G MC1R_000003 - rs2228478 - - - - - - Ankita ./. - c.942A>G r.(=) p.(=)
MIR31HG NR_027054.1 9 Unknown g.21481483G>A IFNE_000001 IFNE rs2039381 IGV 1000G KOREAN Cho et al.(2013) CANDIDATE T Ankita ./. - n.211-4192C>T - -
MTHFR NM_005957.4 1 Unknown g.11856378G>A MTHFR_000001 MTHFR rs1801133 IGV 1000G HAN CHINESE Chen et al.(2014) CANDIDATE T Ankita ./. - c.665C>T r.(?) p.(Ala222Val)
NLRP1 NM_033004.3 17 Unknown g.5425077T>C NLRP1_000003 NLRP1 rs11651270 IGV 1000G EUROPEAN Levandowski et al.(2013) CANDIDATE - Ankita ./. - c.3550A>G r.(?) p.(Met1184Val)
NLRP1 NM_033004.3 17 Unknown g.5420328C>T NLRP1_000002 NLRP1 rs6502867 IGV 1000G INDIAN;CAUCASIAN;ROMANIAN Dwivedi et al.(2013);Jin et al.(2007);Jin et al.(2009) EXPRESSION, CANDIDATE -;A;- Ankita ./. - c.4057+738G>A r.(=) p.(=)
NLRP1 NM_033004.3 17 Unknown g.5485367A>T NLRP1_000001 NLRP1 rs12150220 NA 1000G INDIAN;EUROPEAN Dwivedi et al.(2013);Levandowski et al.(2013) EXPRESSION, CANDIDATE -;- Ankita ./. - c.464T>A r.(?) p.(Leu155His)
NOS2 NM_000625.4 17 Unknown g.26096597G>A NOS2_000001 iNOS rs2297518 IGV 1000G HAN CHINESE; EGYPTIAN Zhang et al.(2011);Zayed et al.(2014) CANDIDATE C;C Ankita ./. - c.1823C>T r.(?) p.(Ser608Leu)
NPY NM_000905.3 7 Unknown g.24324879T>C NPY_000001 NPY rs16139 IGV 1000G INDIAN Laddha et al.(2014) CANDIDATE - Ankita ./. - c.20T>C r.(?) p.(Leu7Pro)
NR1H3 NM_005693.3 11 Parent #2 g.47280762G>A NR1H3_000002 - rs11039155 - - - - - - Ankita ./. - - - -
NR1H3 NM_005693.3 11 Parent #2 g.47282024C>T NR1H3_000001 - rs2279238 - - - - - - Ankita ./. - - - -
PSMB8 NM_148919.3 6 Unknown g.32811383A>G PSMB8_000001 TAP1-PSMB8 rs6924102 IGV 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita ./. - c.147+244T>C - -
PSMB8 NM_148919.3 6 Unknown g.32811629_32811630del PSMB8_000002 LMP7 rs2071543 IGV 1000G CAUCASIAN/EUROPEAN Casp et al.(2003) CANDIDATE - Ankita ./. - c.144_145del r.(?) p.(Met48Ilefs*20)
PSMB9 NM_002800.4 6 Unknown g.32825090G>A PSMB9_000001 LMP2 rs17587 IGV 1000G CAUCASIAN/EUROPEAN;SAUDI Casp et al.(2003);Elhawary et al.(2014) CANDIDATE -;- Ankita ./. - c.179G>A - -
PTPN22 NM_015967.5 1 Unknown g.114377568_114377569del PTPN22_000001 PTPN22 rs2476601 NA 1000G EUROPEAN;EUROPEAN;MULTIPLE POPULATIONS(META-ANALYSIS);MULTIPLE POPULATIONS(META-ANALYSIS);ROMANIAN;CAUCASIAN/EUROPEAN;MEXICAN Jin et al.(2010);Cantón et al.(2005);Song et al.(2013);Zheng et al.(2012);Laberge et al.(2008);LaBerge et al.(2008);Garcia et al.(2014) GWAS, CANDIDATE A;T;T;T;T;T;T Ankita ./. - c.1857_1858del r.(?) p.(Trp620Aspfs*3)
RERE NM_012102.3 1 Unknown g.8501786A>G RERE_000001 RERE rs301819 NA 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita ./. - c.1204-18919T>C r.(=) p.(=)
RERE NM_012102.3 1 Unknown g.8526142G>A RERE_000002 RERE rs4908760 IGV 1000G EUROPEAN Jin et al.(2010) GWAS G Ankita ./. - c.1105-59C>T r.(=) p.(=)
RERE NM_012102.3 1 Unknown g.8569906C>T RERE_000003 RERE rs11121194 NA 1000G EUROPEAN Jin et al.(2010) GWAS C Ankita ./. - c.831-1172G>A r.(=) p.(=)
RERE NM_012102.3 1 Parent #2 g.8484823A>G RERE_000004 - rs301807 - - - - - - Ankita ./. - c.1204-1956T>C r.(=) p.(=)
RNASET2 NM_003730.4 6 Unknown g.167360389T>C RNASET2_000001 RNASET2 rs2236313 IGV 1000G HAN CHINESE Quan et al.(2010) GWAS - Ankita ./. - c.204-162A>G r.(=) p.(=)
RPGRIP1L NM_015272.2 16 Unknown g.53639438C>T RPGRIP1L_000001 KIAA1005 rs3213758 IGV 1000G KOREAN Cheong et al.(2013) GWAS - Ankita ./. - c.3790G>A r.(?) p.(Asp1264Asn)
SH2B3 NM_005475.2 12 Unknown g.111884608T>C SH2B3_000001 SH2B3 rs3184504 IGV 1000G EUROPEAN;EUROPEAN Jin et al.(2011);Jin et al.(2010) GWAS, CANDIDATE -;- Ankita ./. - c.784T>C - -
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