rs587777387

Orientation

plus

Stabilized

plus

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

Make rs587777387(C;T)

Make rs587777387(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

73914835

Gene

ACTG2

is a	snp
is	mentioned by
dbSNP	rs587777387
dbSNP (classic)	rs587777387
ClinGen	rs587777387
ebi	rs587777387
HLI	rs587777387
Exac	rs587777387
Gnomad	rs587777387
Varsome	rs587777387
LitVar	rs587777387
Map	rs587777387
PheGenI	rs587777387
Biobank	rs587777387
1000 genomes	rs587777387
hgdp	rs587777387
ensembl	rs587777387
geneview	rs587777387
scholar	rs587777387
google	rs587777387
pharmgkb	rs587777387
gwascentral	rs587777387
openSNP	rs587777387
23andMe	rs587777387
SNPshot	rs587777387
SNPdbe	rs587777387
MSV3d	rs587777387
GWAS Ctlg	rs587777387

Max Magnitude

0

ClinVar
Risk	rs587777387(T;T)
Alt	rs587777387(T;T)
Reference	Rs587777387(C;C)
Significance	Pathogenic
Disease	Visceral myopathy Inborn genetic diseases Chronic intestinal pseudoobstruction Megacystis not provided
Variation	info
Gene	ACTG2
CLNDBN	Visceral myopathy Inborn genetic diseases Chronic intestinal pseudoobstruction Megacystis not provided
Reversed	0
HGVS	NC_000002.11:g.74141962C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000119272.2, RCV000190747.1, RCV000210354.1, RCV000413107.1,