rs875989846, GTF2E2

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.
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
CUI: C4310785
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
2 0.925 0.080 8 30612400 missense variant C/G snv 0.800 0
Trichothiodystrophy Syndromes
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
15 0.925 0.080 8 30612400 missense variant C/G snv 0.010 1.000 1 2016 2016