rs121912634

Orientation

minus

Stabilized

minus

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

Make rs121912634(A;G)

Make rs121912634(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109798768

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs121912634
dbSNP (classic)	rs121912634
ClinGen	rs121912634
ebi	rs121912634
HLI	rs121912634
Exac	rs121912634
Gnomad	rs121912634
Varsome	rs121912634
LitVar	rs121912634
Map	rs121912634
PheGenI	rs121912634
Biobank	rs121912634
1000 genomes	rs121912634
hgdp	rs121912634
ensembl	rs121912634
geneview	rs121912634
scholar	rs121912634
google	rs121912634
pharmgkb	rs121912634
gwascentral	rs121912634
openSNP	rs121912634
23andMe	rs121912634
SNPshot	rs121912634
SNPdbe	rs121912634
MSV3d	rs121912634
GWAS Ctlg	rs121912634

Max Magnitude

0

OMIM	605427
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912634(G;G)
Alt	rs121912634(G;G)
Reference	Rs121912634(A;A)
Significance	Pathogenic
Disease	Spondylometaphyseal dysplasia Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Spondylometaphyseal dysplasia, Kozlowski type Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110236573T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005284.3, RCV000202481.1,