rs121912636

Orientation

minus

Stabilized

minus

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

Make rs121912636(A;T)

Make rs121912636(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109798775

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs121912636
dbSNP (classic)	rs121912636
ClinGen	rs121912636
ebi	rs121912636
HLI	rs121912636
Exac	rs121912636
Gnomad	rs121912636
Varsome	rs121912636
LitVar	rs121912636
Map	rs121912636
PheGenI	rs121912636
Biobank	rs121912636
1000 genomes	rs121912636
hgdp	rs121912636
ensembl	rs121912636
geneview	rs121912636
scholar	rs121912636
google	rs121912636
pharmgkb	rs121912636
gwascentral	rs121912636
openSNP	rs121912636
23andMe	rs121912636
SNPshot	rs121912636
SNPdbe	rs121912636
MSV3d	rs121912636
GWAS Ctlg	rs121912636

Max Magnitude

0

OMIM	605427
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912636(G;G) rs121912636(T;T)
Alt	rs121912636(G;G) rs121912636(T;T)
Reference	Rs121912636(A;A)
Significance	Pathogenic
Disease	Metatrophic dysplasia Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Metatrophic dysplasia Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110236580T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005286.3, RCV000202518.1,