rs3742030

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs3742030(C;T)

Make rs3742030(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109814742

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs3742030
dbSNP (classic)	rs3742030
ClinGen	rs3742030
ebi	rs3742030
HLI	rs3742030
Exac	rs3742030
Gnomad	rs3742030
Varsome	rs3742030
LitVar	rs3742030
Map	rs3742030
PheGenI	rs3742030
Biobank	rs3742030
1000 genomes	rs3742030
hgdp	rs3742030
ensembl	rs3742030
geneview	rs3742030
scholar	rs3742030
google	rs3742030
pharmgkb	rs3742030
gwascentral	rs3742030
openSNP	rs3742030
23andMe	rs3742030
SNPshot	rs3742030
SNPdbe	rs3742030
MSV3d	rs3742030
GWAS Ctlg	rs3742030

GMAF

0.04454

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

OMIM	605427
Desc	TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4;
Variant
Related	also

OMIM	605427
Desc
Variant	0012
Related	also

ClinVar
Risk	rs3742030(G;G) rs3742030(T;T)
Alt	rs3742030(G;G) rs3742030(T;T)
Reference	Rs3742030(C;C)
Significance	Other
Disease	Sodium serum level quantitative trait locus 1 not specified Distal spinal muscular atrophy Spondylometaphyseal dysplasia Brachyolmia Charcot-Marie-Tooth Metatrophic dysplasia Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease type 2C
Variation	info
Gene	TRPV4
CLNDBN	Sodium serum level quantitative trait locus 1 not specified Distal spinal muscular atrophy, congenital nonprogressive Spondylometaphyseal dysplasia Brachyolmia Charcot-Marie-Tooth, Type 2 Metatrophic dysplasia Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease type 2C
Reversed	1
HGVS	NC_000012.11:g.110252547G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005297.3, RCV000125613.3, RCV000259885.1, RCV000277523.1, RCV000317460.1, RCV000330660.1, RCV000357119.1, RCV000388208.1, RCV000462366.1,