Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs76169311
rs76169311
CRB1
2 1.000 0.120 1 197372771 intron variant G/A snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs12468394
rs12468394
THADA
1 1.000 0.120 2 43334022 intron variant C/A snv 0.48 0.700 1.000 2 2011 2012
dbSNP: rs12478601
rs12478601
THADA
1 0.851 0.200 2 43494369 intron variant C/T snv 0.61 0.820 0.750 2 2011 2019
dbSNP: rs13405728
rs13405728
LHCGR ; STON1-GTF2A1L
1 0.790 0.200 2 48751020 intron variant A/G snv 0.15 0.900 0.818 2 2011 2019
dbSNP: rs13429458
rs13429458
THADA
1 0.827 0.200 2 43411699 intron variant A/C snv 0.14 0.890 0.800 2 2011 2019
dbSNP: rs7563201
rs7563201
THADA
1 1.000 0.120 2 43334641 intron variant G/A snv 0.45 0.700 1.000 2 2015 2018
dbSNP: rs10179648
rs10179648
THADA
1 1.000 0.120 2 43580926 intron variant C/T snv 0.70 0.700 1.000 1 2011 2011
dbSNP: rs1038822
rs1038822
THADA
1 1.000 0.120 2 43511034 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10865238
rs10865238
FSHR
1 1.000 0.120 2 49041665 intron variant A/G snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs11891936
rs11891936
THADA
1 1.000 0.120 2 43305163 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs1351592
rs1351592
ERBB4
1 1.000 0.120 2 212529988 intron variant C/G snv 0.29 0.710 1.000 1 2015 2017
dbSNP: rs17030684
rs17030684
THADA
1 1.000 0.120 2 43320989 intron variant G/A snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs1873555
rs1873555
THADA
1 1.000 0.120 2 43552526 intron variant T/C snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs2178575
rs2178575
ERBB4
1 1.000 0.120 2 212527042 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2268361
rs2268361
FSHR
1 1.000 0.120 2 48974473 intron variant C/T snv 0.53 0.810 1.000 1 2012 2015
dbSNP: rs2349415
rs2349415
FSHR
1 1.000 0.120 2 49020693 intron variant T/C snv 0.63 0.710 1.000 1 2012 2015
dbSNP: rs4340576
rs4340576
THADA
1 1.000 0.120 2 43328367 intron variant T/C snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs6726014
rs6726014
THADA
1 1.000 0.120 2 43556155 3 prime UTR variant A/T snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs6731009
rs6731009
THADA
1 1.000 0.120 2 43576289 intron variant T/C snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs74585555
rs74585555 		2 1.000 0.120 2 81214976 intergenic variant G/A snv 4.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs7558302
rs7558302 		1 1.000 0.120 2 43609548 TF binding site variant C/T snv 0.59 0.700 1.000 1 2011 2011
dbSNP: rs7559891
rs7559891
THADA
1 1.000 0.120 2 43539900 intron variant G/A snv 0.60 0.700 1.000 1 2011 2011
dbSNP: rs7567607
rs7567607
THADA
1 1.000 0.120 2 43411046 intron variant C/T snv 0.69 0.700 1.000 1 2011 2011
dbSNP: rs7568365
rs7568365
THADA
1 1.000 0.120 2 43411716 intron variant C/T snv 0.69 0.700 1.000 1 2011 2011
dbSNP: rs7574059
rs7574059 		1 1.000 0.120 2 123613428 intergenic variant G/A;C;T snv 0.700 1.000 1 2015 2015