rs587777450

Orientation

plus

Stabilized

minus

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

Make rs587777450(C;T)

Make rs587777450(T;T)

Reference

GRCh38 38.1/142

Chromosome

18

Position

10671729

Gene

PIEZO2

is a	snp
is	mentioned by
dbSNP	rs587777450
dbSNP (classic)	rs587777450
ClinGen	rs587777450
ebi	rs587777450
HLI	rs587777450
Exac	rs587777450
Gnomad	rs587777450
Varsome	rs587777450
LitVar	rs587777450
Map	rs587777450
PheGenI	rs587777450
Biobank	rs587777450
1000 genomes	rs587777450
hgdp	rs587777450
ensembl	rs587777450
geneview	rs587777450
scholar	rs587777450
google	rs587777450
pharmgkb	rs587777450
gwascentral	rs587777450
openSNP	rs587777450
23andMe	rs587777450
SNPshot	rs587777450
SNPdbe	rs587777450
MSV3d	rs587777450
GWAS Ctlg	rs587777450

Max Magnitude

0

ClinVar
Risk	Rs587777450(C;C) rs587777450(T;T)
Alt	Rs587777450(C;C) rs587777450(T;T)
Reference	Rs587777450(G;G)
Significance	Pathogenic
Disease	Gordon's syndrome Oculomelic amyoplasia
Variation	info
Gene	PIEZO2
CLNDBN	Gordon's syndrome Oculomelic amyoplasia
Reversed	1
HGVS	NC_000018.9:g.10671726C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000125478.4, RCV000224805.1,