rs374161061, HSD17B4

N. diseases: 2
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.
Gonadal dysgenesis XX type deafness
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
11 1.000 0.280 5 119499543 missense variant A/G snv 1.2E-04 2.1E-05 0.010 1.000 1 2017 2017
neurological disability
CUI: C0848771
Disease: neurological disability
6 1.000 0.280 5 119499543 missense variant A/G snv 1.2E-04 2.1E-05 0.010 1.000 1 2017 2017