rs370454709, ERCC2

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.
Photosensitive Trichothiodystrophy
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
13 1.000 0.080 19 45364274 missense variant C/T snv 5.6E-05 4.2E-05 0.700 1.000 6 1994 2001