rs121912632

Orientation

minus

Stabilized

minus

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

Make rs121912632(A;A)

Make rs121912632(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109792407

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs121912632
dbSNP (classic)	rs121912632
ClinGen	rs121912632
ebi	rs121912632
HLI	rs121912632
Exac	rs121912632
Gnomad	rs121912632
Varsome	rs121912632
LitVar	rs121912632
Map	rs121912632
PheGenI	rs121912632
Biobank	rs121912632
1000 genomes	rs121912632
hgdp	rs121912632
ensembl	rs121912632
geneview	rs121912632
scholar	rs121912632
google	rs121912632
pharmgkb	rs121912632
gwascentral	rs121912632
openSNP	rs121912632
23andMe	rs121912632
SNPshot	rs121912632
SNPdbe	rs121912632
MSV3d	rs121912632
GWAS Ctlg	rs121912632

Max Magnitude

0

OMIM	605427
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912632(A;A)
Alt	rs121912632(A;A)
Reference	Rs121912632(G;G)
Significance	Pathogenic
Disease	Brachyrachia (short spine dysplasia) Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Brachyrachia (short spine dysplasia) Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110230212C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005280.3, RCV000202519.1,