Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607145
rs267607145
TRPV4
0.800 GeneticVariation UNIPROT Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953

2012
dbSNP: rs267607145
rs267607145
TRPV4
0.800 GeneticVariation UNIPROT Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 20037587

2010
dbSNP: rs267607145
rs267607145
TRPV4
A 0.800 CausalMutation CLINVAR

dbSNP: rs267607144
rs267607144
TRPV4
0.710 GeneticVariation BEFREE We report the first Italian family with SPSMA, harboring the c.806G>A mutation in TRPV4 gene (p. R269H). 26948711

2017
dbSNP: rs267607144
rs267607144
TRPV4
T 0.710 CausalMutation CLINVAR

dbSNP: rs267607143
rs267607143
TRPV4
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607146
rs267607146
TRPV4
A 0.700 CausalMutation CLINVAR

dbSNP: rs387906905
rs387906905
TRPV4
0.010 GeneticVariation BEFREE We report the first Italian family with SPSMA, harboring the c.806G>A mutation in TRPV4 gene (p. R269H). 26948711

2017