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: rs104894966
rs104894966
SRY
3 0.882 0.200 Y 2787267 missense variant C/T snv 0.010 1.000 1 1993 1993
dbSNP: rs104894971
rs104894971
SRY
3 0.882 0.200 Y 2787551 missense variant C/T snv 4.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs104894972
rs104894972
SRY
6 0.807 0.240 Y 2787320 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs1217301314
rs1217301314
SSRP1
5 0.827 0.240 11 57333494 missense variant T/C snv 1.2E-05 2.1E-05 0.010 1.000 1 2000 2000
dbSNP: rs121918655
rs121918655
NR5A1
5 0.851 0.200 9 124493143 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs201340156
rs201340156
NR5A1
3 0.882 0.200 9 124500571 missense variant G/A;C snv 6.7E-05 0.010 1.000 1 2016 2016