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rs387906324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906324(A;A)
Make rs387906324(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109808308
GeneTRPV4
is asnp
is mentioned by
dbSNPrs387906324
ebirs387906324
HLIrs387906324
Exacrs387906324
Varsomers387906324
Maprs387906324
PheGenIrs387906324
hapmaprs387906324
1000 genomesrs387906324
hgdprs387906324
ensemblrs387906324
gopubmedrs387906324
geneviewrs387906324
scholarrs387906324
googlers387906324
pharmgkbrs387906324
gwascentralrs387906324
openSNPrs387906324
23andMers387906324
23andMe allrs387906324
SNP Nexus

SNPshotrs387906324
SNPdbers387906324
MSV3drs387906324
GWAS Ctlgrs387906324
Max Magnitude0
ClinVar
Risk rs387906324(A;A)
Alt rs387906324(A;A)
Reference rs387906324(G;G)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110246113C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005306.2, RCV000202438.1,