rs121912633

Orientation

minus

Stabilized

minus

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

Make rs121912633(A;A)

Make rs121912633(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109792396

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs121912633
dbSNP (classic)	rs121912633
ClinGen	rs121912633
ebi	rs121912633
HLI	rs121912633
Exac	rs121912633
Gnomad	rs121912633
Varsome	rs121912633
LitVar	rs121912633
Map	rs121912633
PheGenI	rs121912633
Biobank	rs121912633
1000 genomes	rs121912633
hgdp	rs121912633
ensembl	rs121912633
geneview	rs121912633
scholar	rs121912633
google	rs121912633
pharmgkb	rs121912633
gwascentral	rs121912633
openSNP	rs121912633
23andMe	rs121912633
SNPshot	rs121912633
SNPdbe	rs121912633
MSV3d	rs121912633
GWAS Ctlg	rs121912633

GMAF

0.0004591

Max Magnitude

0

OMIM	605427
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912633(A;A)
Alt	rs121912633(A;A)
Reference	Rs121912633(G;G)
Significance	Pathogenic
Disease	Brachyrachia (short spine dysplasia) Skeletal dysplasia Neuromuscular Diseases
Variation	info
Gene	TRPV4
CLNDBN	Brachyrachia (short spine dysplasia) Skeletal dysplasia Neuromuscular Diseases
Reversed	1
HGVS	NC_000012.11:g.110230201C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005281.4, RCV000202464.1, RCV000202535.1,