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rs515726166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGTCTCATTCTTGCCCG;GGTCTCATTCTTGCCCG) 0 common in clinvar
Make rs515726166(-;-)
Make rs515726166(-;GGTCTCATTCTTGCCCG)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109784362
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726166
dbSNP (classic)rs515726166
ClinGenrs515726166
ebirs515726166
HLIrs515726166
Exacrs515726166
Gnomadrs515726166
Varsomers515726166
LitVarrs515726166
Maprs515726166
PheGenIrs515726166
Biobankrs515726166
1000 genomesrs515726166
hgdprs515726166
ensemblrs515726166
geneviewrs515726166
scholarrs515726166
googlers515726166
pharmgkbrs515726166
gwascentralrs515726166
openSNPrs515726166
23andMers515726166
SNPshotrs515726166
SNPdbers515726166
MSV3drs515726166
GWAS Ctlgrs515726166
Max Magnitude0
ClinVar
Risk rs515726166(-;-)
Alt rs515726166(-;-)
Reference Rs515726166(GGTCTCATTCTTGCCCG;GGTCTCATTCTTGCCCG)
Significance Pathogenic
Disease Neuromuscular Diseases Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Neuromuscular Diseases Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110222167_110222183del17
CLNSRC
CLNACC RCV000202488.1,