rs750323550, GTF2H4

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 Syndromes
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
15 0.925 0.240 6 30909503 missense variant C/T snv 0.010 1.000 1 1999 1999
Xeroderma pigmentosum and Cockayne syndrome complex
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
6 0.925 0.240 6 30909503 missense variant C/T snv 0.010 1.000 1 1999 1999