Source: ALL
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: rs9332964
rs9332964
SRD5A2
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.710 1.000 1 2003 2003
dbSNP: rs1480612338
rs1480612338
DHH ; LOC105369759
4 0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06 0.700 1.000 1 2018 2018
dbSNP: rs1565573786
rs1565573786
DHH ; LOC105369759
6 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs104893667
rs104893667
SRD5A2
1 1.000 2 31580823 stop gained G/A;C snv 0.700 0
dbSNP: rs1057515576
rs1057515576
ARL6
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
17 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 0
dbSNP: rs1553329427
rs1553329427
SRD5A2
4 0.851 0.200 2 31580683 frameshift variant A/- del 0.700 0
dbSNP: rs387906271
rs387906271
CHD7
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
13 0.790 0.160 2 240775863 missense variant G/A snv 0.700 0
dbSNP: rs773722162
rs773722162
CELSR2
5 0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05 0.700 0
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.020 1.000 2 2003 2014
dbSNP: rs1110061
rs1110061
NR5A1
7 0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10 0.010 1.000 1 2005 2005
dbSNP: rs121434250
rs121434250
SRD5A2
7 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs121912530
rs121912530
LHCGR ; GTF2A1L ; STON1-GTF2A1L
4 0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1311014616
rs1311014616
SRD5A2
2 0.925 0.040 2 31580733 missense variant C/G snv 8.4E-06 0.010 1.000 1 2009 2009
dbSNP: rs2066479
rs2066479
HSD17B3
7 0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.010 1.000 1 2005 2005
dbSNP: rs2292596
rs2292596
AHRR
7 0.827 0.240 5 422840 missense variant C/G;T snv 0.38; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs371701248
rs371701248
NR5A1
3 0.882 0.160 9 124491156 missense variant C/T snv 1.3E-04 5.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs554416372
rs554416372
WT1
5 0.827 0.160 11 32396397 missense variant C/A;G;T snv 2.0E-05; 8.0E-06; 9.6E-05 0.010 1.000 1 2018 2018