Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149614625
rs149614625
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
0.800 GeneticVariation UNIPROT
dbSNP: rs149614625
rs149614625
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
G 0.800 CausalMutation CLINVAR