rs387907220

Orientation

minus

Stabilized

minus

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

Make rs387907220(G;T)

Make rs387907220(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109800662

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs387907220
dbSNP (classic)	rs387907220
ClinGen	rs387907220
ebi	rs387907220
HLI	rs387907220
Exac	rs387907220
Gnomad	rs387907220
Varsome	rs387907220
LitVar	rs387907220
Map	rs387907220
PheGenI	rs387907220
Biobank	rs387907220
1000 genomes	rs387907220
hgdp	rs387907220
ensembl	rs387907220
geneview	rs387907220
scholar	rs387907220
google	rs387907220
pharmgkb	rs387907220
gwascentral	rs387907220
openSNP	rs387907220
23andMe	rs387907220
SNPshot	rs387907220
SNPdbe	rs387907220
MSV3d	rs387907220
GWAS Ctlg	rs387907220

Max Magnitude

0

ClinVar
Risk	rs387907220(T;T)
Alt	rs387907220(T;T)
Reference	Rs387907220(G;G)
Significance	Pathogenic
Disease	Digital arthropathy-brachydactyly
Variation	info
Gene	TRPV4
CLNDBN	Digital arthropathy-brachydactyly, familial
Reversed	1
HGVS	NC_000012.11:g.110238467C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029174.3,