rs11549190

Orientation

minus

Stabilized

minus

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

Make rs11549190(C;T)

Make rs11549190(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81511586

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs11549190
dbSNP (classic)	rs11549190
ClinGen	rs11549190
ebi	rs11549190
HLI	rs11549190
Exac	rs11549190
Gnomad	rs11549190
Varsome	rs11549190
LitVar	rs11549190
Map	rs11549190
PheGenI	rs11549190
Biobank	rs11549190
1000 genomes	rs11549190
hgdp	rs11549190
ensembl	rs11549190
geneview	rs11549190
scholar	rs11549190
google	rs11549190
pharmgkb	rs11549190
gwascentral	rs11549190
openSNP	rs11549190
23andMe	rs11549190
SNPshot	rs11549190
SNPdbe	rs11549190
MSV3d	rs11549190
GWAS Ctlg	rs11549190

Max Magnitude

0

ClinVar
Risk	rs11549190(T;T)
Alt	rs11549190(T;T)
Reference	Rs11549190(C;C)
Significance	Pathogenic
Disease	Baraitser-Winter Syndrome 2 not provided
Variation	info
Gene	ACTG1
CLNDBN	Baraitser-Winter Syndrome 2 not provided
Reversed	1
HGVS	NC_000017.10:g.79478612G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022424.28, RCV000059725.1,

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