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rs387907219

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907219(C;C)
Make rs387907219(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109800659
GeneTRPV4
is asnp
is mentioned by
dbSNPrs387907219
ebirs387907219
HLIrs387907219
Exacrs387907219
Varsomers387907219
Maprs387907219
PheGenIrs387907219
hapmaprs387907219
1000 genomesrs387907219
hgdprs387907219
ensemblrs387907219
gopubmedrs387907219
geneviewrs387907219
scholarrs387907219
googlers387907219
pharmgkbrs387907219
gwascentralrs387907219
openSNPrs387907219
23andMers387907219
23andMe allrs387907219
SNP Nexus

SNPshotrs387907219
SNPdbers387907219
MSV3drs387907219
GWAS Ctlgrs387907219
Max Magnitude0
ClinVar
Risk rs387907219(A,C;A,C)
Alt rs387907219(A,C;A,C)
Reference rs387907219(G;G)
Significance Pathogenic
Disease Digital arthropathy-brachydactyly
Variation info
Gene TRPV4
CLNDBN Digital arthropathy-brachydactyly, familial
Reversed 1
HGVS NC_000012.11:g.110238464C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000029173.2,