rs121434365, GTF2H5

N. diseases: 1
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 3, PHOTOSENSITIVE
CUI: C4017171
Disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
3 1.000 6 158192003 missense variant T/A;C snv 4.0E-06 0.800 1.000 1 2004 2004