rs121913046, ERCC3

N. diseases: 3
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 2, PHOTOSENSITIVE
CUI: C4225344
Disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
1 0.882 0.240 2 127292726 missense variant T/G snv 0.800 0
Trichothiodystrophy Syndromes
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
15 0.882 0.240 2 127292726 missense variant T/G snv 0.010 1.000 1 1999 1999
Xeroderma pigmentosum and Cockayne syndrome complex
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
6 0.882 0.240 2 127292726 missense variant T/G snv 0.010 1.000 1 1999 1999