rs121912635

Orientation

minus

Stabilized

minus

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

Make rs121912635(G;T)

Make rs121912635(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109788462

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs121912635
dbSNP (classic)	rs121912635
ClinGen	rs121912635
ebi	rs121912635
HLI	rs121912635
Exac	rs121912635
Gnomad	rs121912635
Varsome	rs121912635
LitVar	rs121912635
Map	rs121912635
PheGenI	rs121912635
Biobank	rs121912635
1000 genomes	rs121912635
hgdp	rs121912635
ensembl	rs121912635
geneview	rs121912635
scholar	rs121912635
google	rs121912635
pharmgkb	rs121912635
gwascentral	rs121912635
openSNP	rs121912635
23andMe	rs121912635
SNPshot	rs121912635
SNPdbe	rs121912635
MSV3d	rs121912635
GWAS Ctlg	rs121912635

Max Magnitude

0

OMIM	605427
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912635(T;T)
Alt	rs121912635(T;T)
Reference	Rs121912635(G;G)
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.110226267C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005285.3, RCV000202454.1,