Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434365
rs121434365
GTF2H5
0.800 GeneticVariation UNIPROT A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. 15220921

2004
dbSNP: rs121434365
rs121434365
GTF2H5
C 0.800 CausalMutation CLINVAR

dbSNP: rs121434364
rs121434364
GTF2H5
T 0.700 CausalMutation CLINVAR

dbSNP: rs765378190
rs765378190
GTF2H5
G 0.700 GeneticVariation CLINVAR