Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894956
rs104894956
SRY
1.000 0.160 Y 2787278 missense variant A/G snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894957
rs104894957
SRY
1.000 0.160 Y 2787426 missense variant C/G snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894959
rs104894959
SRY
0.925 0.160 Y 2787334 missense variant G/C snv 1.5E-05
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894964
rs104894964
SRY
1.000 0.160 Y 2787287 missense variant T/A snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894966
rs104894966
SRY
0.882 0.200 Y 2787267 missense variant C/T snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894968
rs104894968
SRY
1.000 0.160 Y 2787401 missense variant A/G snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894969
rs104894969
SRY
1.000 0.160 Y 2787412 missense variant C/T snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894971
rs104894971
SRY
0.882 0.200 Y 2787551 missense variant C/T snv 4.4E-05
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894972
rs104894972
SRY
0.807 0.240 Y 2787320 missense variant C/T snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894973
rs104894973
SRY
1.000 0.160 Y 2787224 missense variant T/A;C snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2017
dbSNP: rs104894974
rs104894974
SRY
0.925 0.160 Y 2787321 missense variant C/G snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs104894976
rs104894976
SRY
1.000 0.160 Y 2787207 missense variant G/A snv
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.800 1.000 21 1990 2007
dbSNP: rs764249635
rs764249635
SRY
1.000 0.160 Y 2787425 missense variant A/G snv 1.5E-05
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 1.000 20 1990 2007