rs187864727

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs187864727(A;A)

Make rs187864727(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

109803054

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs187864727
dbSNP (classic)	rs187864727
ClinGen	rs187864727
ebi	rs187864727
HLI	rs187864727
Exac	rs187864727
Gnomad	rs187864727
Varsome	rs187864727
LitVar	rs187864727
Map	rs187864727
PheGenI	rs187864727
Biobank	rs187864727
1000 genomes	rs187864727
hgdp	rs187864727
ensembl	rs187864727
geneview	rs187864727
scholar	rs187864727
google	rs187864727
pharmgkb	rs187864727
gwascentral	rs187864727
openSNP	rs187864727
23andMe	rs187864727
SNPshot	rs187864727
SNPdbe	rs187864727
MSV3d	rs187864727
GWAS Ctlg	rs187864727

Max Magnitude

0

ClinVar
Risk	rs187864727(A;A) rs187864727(T;T)
Alt	rs187864727(A;A) rs187864727(T;T)
Reference	Rs187864727(C;C)
Significance	Pathogenic
Disease	Neuromuscular Diseases Skeletal dysplasia Charcot-Marie-Tooth disease type 2C not specified Charcot-Marie-Tooth Distal spinal muscular atrophy Spondylometaphyseal dysplasia Brachyolmia Metatrophic dysplasia Scapuloperoneal spinal muscular atrophy
Variation	info
Gene	TRPV4
CLNDBN	Neuromuscular Diseases Skeletal dysplasia Charcot-Marie-Tooth disease type 2C not specified Charcot-Marie-Tooth, Type 2 Distal spinal muscular atrophy, congenital nonprogressive Spondylometaphyseal dysplasia Brachyolmia Metatrophic dysplasia Scapuloperoneal spinal muscular atrophy
Reversed	0
HGVS	NC_000012.11:g.110240859C>A; NC_000012.11:g.110240859C>T
CLNSRC
CLNACC	RCV000202491.1, RCV000232398.2, RCV000243440.1, RCV000263101.1, RCV000264502.1, RCV000303216.1, RCV000315964.1, RCV000355529.1, RCV000361514.1, RCV000464061.1,