Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908838
rs121908838
TP63
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		0.800 GeneticVariation UNIPROT p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 11462173

2001
dbSNP: rs121908838
rs121908838
TP63
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		0.800 GeneticVariation UNIPROT Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 10839977

2000