rs281875334

Orientation

minus

Stabilized

minus

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

Make rs281875334(A;A)

Make rs281875334(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5528496

Gene

ACTB

is a	snp
is	mentioned by
dbSNP	rs281875334
dbSNP (classic)	rs281875334
ClinGen	rs281875334
ebi	rs281875334
HLI	rs281875334
Exac	rs281875334
Gnomad	rs281875334
Varsome	rs281875334
LitVar	rs281875334
Map	rs281875334
PheGenI	rs281875334
Biobank	rs281875334
1000 genomes	rs281875334
hgdp	rs281875334
ensembl	rs281875334
geneview	rs281875334
scholar	rs281875334
google	rs281875334
pharmgkb	rs281875334
gwascentral	rs281875334
openSNP	rs281875334
23andMe	rs281875334
SNPshot	rs281875334
SNPdbe	rs281875334
MSV3d	rs281875334
GWAS Ctlg	rs281875334

Max Magnitude

0

ClinVar
Risk	rs281875334(A;A)
Alt	rs281875334(A;A)
Reference	Rs281875334(G;G)
Significance	Pathogenic
Disease	Baraitser-Winter syndrome 1 not provided
Variation	info
Gene	ACTB
CLNDBN	Baraitser-Winter syndrome 1 not provided
Reversed	1
HGVS	NC_000007.13:g.5568127C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022439.29, RCV000059721.1,

[PMID 22366783] De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.