rs387906906

Orientation

minus

Stabilized

minus

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

Make rs387906906(C;T)

Make rs387906906(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109786827

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs387906906
dbSNP (classic)	rs387906906
ClinGen	rs387906906
ebi	rs387906906
HLI	rs387906906
Exac	rs387906906
Gnomad	rs387906906
Varsome	rs387906906
LitVar	rs387906906
Map	rs387906906
PheGenI	rs387906906
Biobank	rs387906906
1000 genomes	rs387906906
hgdp	rs387906906
ensembl	rs387906906
geneview	rs387906906
scholar	rs387906906
google	rs387906906
pharmgkb	rs387906906
gwascentral	rs387906906
openSNP	rs387906906
23andMe	rs387906906
SNPshot	rs387906906
SNPdbe	rs387906906
MSV3d	rs387906906
GWAS Ctlg	rs387906906

Max Magnitude

0

ClinVar
Risk	rs387906906(T;T)
Alt	rs387906906(T;T)
Reference	Rs387906906(C;C)
Significance	Pathogenic
Disease	Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110224632G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023432.3, RCV000202544.1,