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rs387907220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907220(G;T)
Make rs387907220(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109800662
GeneTRPV4
is asnp
is mentioned by
dbSNPrs387907220
ebirs387907220
HLIrs387907220
Exacrs387907220
Varsomers387907220
Maprs387907220
PheGenIrs387907220
hapmaprs387907220
1000 genomesrs387907220
hgdprs387907220
ensemblrs387907220
gopubmedrs387907220
geneviewrs387907220
scholarrs387907220
googlers387907220
pharmgkbrs387907220
gwascentralrs387907220
openSNPrs387907220
23andMers387907220
23andMe allrs387907220
SNP Nexus

SNPshotrs387907220
SNPdbers387907220
MSV3drs387907220
GWAS Ctlgrs387907220
Max Magnitude0
ClinVar
Risk rs387907220(T;T)
Alt rs387907220(T;T)
Reference rs387907220(G;G)
Significance Pathogenic
Disease Digital arthropathy-brachydactyly
Variation info
Gene TRPV4
CLNDBN Digital arthropathy-brachydactyly, familial
Reversed 1
HGVS NC_000012.11:g.110238467C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029174.2,