rs78001248

Orientation

plus

Stabilized

plus

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

Make rs78001248(C;T)

Make rs78001248(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

73913565

Gene

ACTG2

is a	snp
is	mentioned by
dbSNP	rs78001248
dbSNP (classic)	rs78001248
ClinGen	rs78001248
ebi	rs78001248
HLI	rs78001248
Exac	rs78001248
Gnomad	rs78001248
Varsome	rs78001248
LitVar	rs78001248
Map	rs78001248
PheGenI	rs78001248
Biobank	rs78001248
1000 genomes	rs78001248
hgdp	rs78001248
ensembl	rs78001248
geneview	rs78001248
scholar	rs78001248
google	rs78001248
pharmgkb	rs78001248
gwascentral	rs78001248
openSNP	rs78001248
23andMe	rs78001248
SNPshot	rs78001248
SNPdbe	rs78001248
MSV3d	rs78001248
GWAS Ctlg	rs78001248

Max Magnitude

0

ClinVar
Risk	rs78001248(T;T)
Alt	rs78001248(T;T)
Reference	Rs78001248(C;C)
Significance	Pathogenic
Disease	Visceral myopathy not provided
Variation	info
Gene	ACTG2
CLNDBN	Visceral myopathy not provided
Reversed	0
HGVS	NC_000002.11:g.74140692C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000119269.2, RCV000326799.1,