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rs187864727

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs187864727(A;A)
Make rs187864727(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position109803054
GeneTRPV4
is asnp
is mentioned by
dbSNPrs187864727
ebirs187864727
HLIrs187864727
Exacrs187864727
Varsomers187864727
Maprs187864727
PheGenIrs187864727
hapmaprs187864727
1000 genomesrs187864727
hgdprs187864727
ensemblrs187864727
gopubmedrs187864727
geneviewrs187864727
scholarrs187864727
googlers187864727
pharmgkbrs187864727
gwascentralrs187864727
openSNPrs187864727
23andMers187864727
23andMe allrs187864727
SNP Nexus

SNPshotrs187864727
SNPdbers187864727
MSV3drs187864727
GWAS Ctlgrs187864727
Max Magnitude0
ClinVar
Risk rs187864727(A;A)
Alt rs187864727(A;A)
Reference rs187864727(C;C)
Significance Pathogenic
Disease Neuromuscular Diseases Skeletal dysplasia Charcot-Marie-Tooth disease type 2C
Variation info
Gene TRPV4
CLNDBN Neuromuscular Diseases Skeletal dysplasia Charcot-Marie-Tooth disease type 2C
Reversed 0
HGVS NC_000012.11:g.110240859C>A
CLNSRC
CLNACC RCV000202491.1, RCV000232398.1,