Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912542
rs121912542
HOXA13
0.800 GeneticVariation UNIPROT Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. 26590955

2016
dbSNP: rs121912542
rs121912542
HOXA13
0.800 GeneticVariation UNIPROT Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. 24934387

2014
dbSNP: rs121912542
rs121912542
HOXA13
0.800 GeneticVariation UNIPROT A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? 12073020

2002
dbSNP: rs121912542
rs121912542
HOXA13
0.800 GeneticVariation UNIPROT Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. 10839976

2000
dbSNP: rs121912542
rs121912542
HOXA13
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894019
rs104894019
HOXA13
T 0.700 CausalMutation CLINVAR

dbSNP: rs1158254994
rs1158254994
HOXA13 ; HOTTIP
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906542
rs387906542
HOXA13 ; HOTTIP
GAGGACGACGCGGCGGCGGCGGCGGCGGCTGCAGCGGCAGCCGCGGCAGCAGC 0.700 CausalMutation CLINVAR