rs121912632, TRPV4

N. diseases: 3
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
0.810 GeneticVariation BEFREE The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G>A (p.R616Q) in 11 individuals. 24677493 2014
Brachyolmia Type 3
CUI: C0432227
Disease: Brachyolmia Type 3
0.810 GeneticVariation UNIPROT Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 18587396 2008
Brachyolmia Type 3
CUI: C0432227
Disease: Brachyolmia Type 3
0.810 CausalMutation CLINVAR