rs104894959, SRY

N. diseases: 2
Source: CURATED ×
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 0.925 0.160 Y 2787334 missense variant G/C snv 1.5E-05 0.800 1.000 21 1990 2007
46,Xy True Hermaphroditism, Sry-Related
CUI: C2748897
Disease: 46,Xy True Hermaphroditism, Sry-Related
1 0.925 0.160 Y 2787334 missense variant G/C snv 1.5E-05 0.700 0