rs121912633, TRPV4

N. diseases: 10
Disease: Brachyolmia Type 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brachyolmia Type 3
CUI: C0432227
Disease: Brachyolmia Type 3
0.800 GeneticVariation UNIPROT Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 18587396 2008
Brachyolmia Type 3
CUI: C0432227
Disease: Brachyolmia Type 3
0.800 CausalMutation CLINVAR