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rs77975504

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs77975504(A;A)
Make rs77975504(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109792695
GeneTRPV4
is asnp
is mentioned by
dbSNPrs77975504
ebirs77975504
HLIrs77975504
Exacrs77975504
Varsomers77975504
Maprs77975504
PheGenIrs77975504
hapmaprs77975504
1000 genomesrs77975504
hgdprs77975504
ensemblrs77975504
gopubmedrs77975504
geneviewrs77975504
scholarrs77975504
googlers77975504
pharmgkbrs77975504
gwascentralrs77975504
openSNPrs77975504
23andMers77975504
23andMe allrs77975504
SNP Nexus

SNPshotrs77975504
SNPdbers77975504
MSV3drs77975504
GWAS Ctlgrs77975504
Max Magnitude0
OMIM605427
Desc
Variant0003
Relatedalso
ClinVar
Risk rs77975504(A;A)
Alt rs77975504(A;A)
Reference rs77975504(G;G)
Significance Pathogenic
Disease Spondylometaphyseal dysplasia Parastremmatic dwarfism Neuromuscular Diseases Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Spondylometaphyseal dysplasia, Kozlowski type Parastremmatic dwarfism Neuromuscular Diseases Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110230500C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005282.2, RCV000005283.2, RCV000202560.1,


[PMID 19232556OA-icon.png] Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.