rs387906903

Orientation

minus

Stabilized

minus

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

Make rs387906903(A;G)

Make rs387906903(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109803113

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs387906903
dbSNP (classic)	rs387906903
ClinGen	rs387906903
ebi	rs387906903
HLI	rs387906903
Exac	rs387906903
Gnomad	rs387906903
Varsome	rs387906903
LitVar	rs387906903
Map	rs387906903
PheGenI	rs387906903
Biobank	rs387906903
1000 genomes	rs387906903
hgdp	rs387906903
ensembl	rs387906903
geneview	rs387906903
scholar	rs387906903
google	rs387906903
pharmgkb	rs387906903
gwascentral	rs387906903
openSNP	rs387906903
23andMe	rs387906903
SNPshot	rs387906903
SNPdbe	rs387906903
MSV3d	rs387906903
GWAS Ctlg	rs387906903

Max Magnitude

0

ClinVar
Risk	rs387906903(G;G)
Alt	rs387906903(G;G)
Reference	Rs387906903(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.110240918T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023428.3, RCV000202524.1,