rs1173716957, HHAT

N. diseases: 3
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.
Chondrodysplasia
CUI: C0343284
Disease: Chondrodysplasia
1 1.000 0.120 1 210464508 missense variant G/T snv 1.4E-05 0.010 1.000 1 2014 2014
Disorders of Sex Development
CUI: C0036875
Disease: Disorders of Sex Development
6 1.000 0.120 1 210464508 missense variant G/T snv 1.4E-05 0.010 1.000 1 2014 2014
Sex Differentiation Disorders
CUI: C2930619
Disease: Sex Differentiation Disorders
10 1.000 0.120 1 210464508 missense variant G/T snv 1.4E-05 0.010 1.000 1 2014 2014