rs121913021, ERCC2

N. diseases: 1
Source: INFERRED ×
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.
Photosensitive Trichothiodystrophy
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05 0.800 1.000 0 1994 2001