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rs515726155

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs515726155(-;AGG)
Make rs515726155(AGG;AGG)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109793948
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726155
dbSNP (classic)rs515726155
ClinGenrs515726155
ebirs515726155
HLIrs515726155
Exacrs515726155
Gnomadrs515726155
Varsomers515726155
LitVarrs515726155
Maprs515726155
PheGenIrs515726155
Biobankrs515726155
1000 genomesrs515726155
hgdprs515726155
ensemblrs515726155
geneviewrs515726155
scholarrs515726155
googlers515726155
pharmgkbrs515726155
gwascentralrs515726155
openSNPrs515726155
23andMers515726155
SNPshotrs515726155
SNPdbers515726155
MSV3drs515726155
GWAS Ctlgrs515726155
Max Magnitude0
ClinVar
Risk rs515726155(AGG;AGG)
Alt rs515726155(AGG;AGG)
Reference Rs515726155(-;-)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110231751_110231753dupAGG
CLNSRC
CLNACC RCV000202461.1,