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: rs1553329427
rs1553329427
SRD5A2
4 0.851 0.200 2 31580683 frameshift variant A/- del 0.700 0
dbSNP: rs201175894
rs201175894
SRD5A2
1 1.000 0.200 2 31580630 missense variant A/C;G snv 8.1E-05; 1.0E-05 0.700 0
dbSNP: rs761824859
rs761824859
SRD5A2
1 1.000 0.200 2 31580842 missense variant A/G snv 8.3E-06 0.700 0
dbSNP: rs121913494
rs121913494
GNAS
7 0.827 0.240 20 58909541 missense variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121434245
rs121434245
SRD5A2
3 0.882 0.200 2 31580737 missense variant A/T snv 0.800 1.000 16 1992 2005
dbSNP: rs587776566
rs587776566
SRD5A2
1 1.000 0.200 2 31531448 inframe deletion ATT/- del 0.700 0
dbSNP: rs121434253
rs121434253
SRD5A2
1 1.000 0.200 2 31529414 missense variant C/A snv 1.2E-05 0.800 1.000 16 1992 2005
dbSNP: rs1553329443
rs1553329443
SRD5A2
1 1.000 0.200 2 31580696 missense variant C/A snv 0.700 0
dbSNP: rs750444774
rs750444774
SRD5A2
1 1.000 0.200 2 31580732 missense variant C/G snv 2.1E-05 1.4E-05 0.700 0
dbSNP: rs121434249
rs121434249
SRD5A2
4 0.851 0.280 2 31529323 missense variant C/G;T snv 4.0E-06 0.800 1.000 19 1992 2013
dbSNP: rs121434250
rs121434250
SRD5A2
7 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.800 1.000 16 1992 2005
dbSNP: rs9332964
rs9332964
SRD5A2
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.810 1.000 23 1992 2019
dbSNP: rs121434246
rs121434246
SRD5A2
2 0.925 0.200 2 31533704 missense variant C/T snv 2.3E-05 2.1E-05 0.800 1.000 16 1992 2005
dbSNP: rs121434247
rs121434247
SRD5A2
1 1.000 0.200 2 31531371 missense variant C/T snv 3.1E-05 1.5E-04 0.800 1.000 16 1992 2005
dbSNP: rs756853742
rs756853742
SRD5A2
1 1.000 0.200 2 31529407 missense variant C/T snv 2.4E-05 0.800 1.000 16 1992 2005
dbSNP: rs9332967
rs9332967
SRD5A2
7 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.800 1.000 16 1992 2005
dbSNP: rs9332961
rs9332961
SRD5A2
1 1.000 0.200 2 31529398 missense variant C/T snv 9.2E-05 2.1E-05 0.700 1.000 9 1990 2015
dbSNP: rs1331249320
rs1331249320
SRD5A2
1 1.000 0.200 2 31533681 missense variant C/T snv 0.700 0
dbSNP: rs1351269392
rs1351269392
SRD5A2
1 1.000 0.200 2 31580647 missense variant C/T snv 4.7E-06 7.0E-06 0.700 0
dbSNP: rs1553323033
rs1553323033
SRD5A2
1 1.000 0.200 2 31526232 frameshift variant G/- delins 0.700 0
dbSNP: rs121434244
rs121434244
SRD5A2
2 1.000 0.200 2 31526225 missense variant G/A snv 2.8E-05 0.800 1.000 24 1977 2016
dbSNP: rs121434248
rs121434248
SRD5A2
1 1.000 0.200 2 31529326 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 1992 2016
dbSNP: rs9332960
rs9332960
SRD5A2
3 0.882 0.200 2 31580885 stop gained G/A snv 1.7E-05 0.700 1.000 4 2003 2011
dbSNP: rs1386577803
rs1386577803
AR
4 0.851 0.240 X 67722872 missense variant G/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1057517829
rs1057517829
SRD5A2
1 1.000 0.200 2 31531376 missense variant G/A snv 7.0E-06 0.700 0