rs587777452

Orientation

plus

Stabilized

minus

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

Make rs587777452(A;A)

Make rs587777452(A;C)

Reference

GRCh38 38.1/142

Chromosome

18

Position

10671633

Gene

PIEZO2

is a	snp
is	mentioned by
dbSNP	rs587777452
dbSNP (classic)	rs587777452
ClinGen	rs587777452
ebi	rs587777452
HLI	rs587777452
Exac	rs587777452
Gnomad	rs587777452
Varsome	rs587777452
LitVar	rs587777452
Map	rs587777452
PheGenI	rs587777452
Biobank	rs587777452
1000 genomes	rs587777452
hgdp	rs587777452
ensembl	rs587777452
geneview	rs587777452
scholar	rs587777452
google	rs587777452
pharmgkb	rs587777452
gwascentral	rs587777452
openSNP	rs587777452
23andMe	rs587777452
SNPshot	rs587777452
SNPdbe	rs587777452
MSV3d	rs587777452
GWAS Ctlg	rs587777452

Max Magnitude

0

ClinVar
Risk	rs587777452(A;A) Rs587777452(C;C)
Alt	rs587777452(A;A) Rs587777452(C;C)
Reference	Rs587777452(G;G)
Significance	Pathogenic
Disease	Oculomelic amyoplasia
Variation	info
Gene	PIEZO2
CLNDBN	Oculomelic amyoplasia
Reversed	1
HGVS	NC_000018.9:g.10671630C>A; NC_000018.9:g.10671630C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000125480.4, RCV000125481.4,