rs104894972, SRY

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
27 0.807 0.240 Y 2787320 missense variant C/T snv 0.800 1.000 21 1990 2007
46, XY female
CUI: C0432470
Disease: 46, XY female
5 0.807 0.240 Y 2787320 missense variant C/T snv 0.010 1.000 1 2000 2000
Adult Yolk Sac Tumor
CUI: C1332221
Disease: Adult Yolk Sac Tumor
2 0.807 0.240 Y 2787320 missense variant C/T snv 0.010 1.000 1 2000 2000
Gonadal Dysgenesis
CUI: C0018051
Disease: Gonadal Dysgenesis
6 0.807 0.240 Y 2787320 missense variant C/T snv 0.010 1.000 1 2000 2000
Turner Syndrome
CUI: C0041408
Disease: Turner Syndrome
21 0.807 0.240 Y 2787320 missense variant C/T snv 0.010 1.000 1 2000 2000
Yolk Sac Tumor
CUI: C0014145
Disease: Yolk Sac Tumor
2 0.807 0.240 Y 2787320 missense variant C/T snv 0.010 1.000 1 2000 2000