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rs387906907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906907(A;G)
Make rs387906907(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109800645
GeneTRPV4
is asnp
is mentioned by
dbSNPrs387906907
ebirs387906907
HLIrs387906907
Exacrs387906907
Varsomers387906907
Maprs387906907
PheGenIrs387906907
hapmaprs387906907
1000 genomesrs387906907
hgdprs387906907
ensemblrs387906907
gopubmedrs387906907
geneviewrs387906907
scholarrs387906907
googlers387906907
pharmgkbrs387906907
gwascentralrs387906907
openSNPrs387906907
23andMers387906907
23andMe allrs387906907
SNP Nexus

SNPshotrs387906907
SNPdbers387906907
MSV3drs387906907
GWAS Ctlgrs387906907
Max Magnitude0
ClinVar
Risk rs387906907(G;G)
Alt rs387906907(G;G)
Reference rs387906907(A;A)
Significance Pathogenic
Disease Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110238450T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023433.2, RCV000202517.1,