rs104894973, SRY

N. diseases: 1
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 1.000 0.160 Y 2787224 missense variant T/A;C snv 0.800 1.000 24 1990 2017