rs281875327

Orientation

minus

Stabilized

minus

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

Make rs281875327(A;A)

Make rs281875327(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81511382

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs281875327
dbSNP (classic)	rs281875327
ClinGen	rs281875327
ebi	rs281875327
HLI	rs281875327
Exac	rs281875327
Gnomad	rs281875327
Varsome	rs281875327
LitVar	rs281875327
Map	rs281875327
PheGenI	rs281875327
Biobank	rs281875327
1000 genomes	rs281875327
hgdp	rs281875327
ensembl	rs281875327
geneview	rs281875327
scholar	rs281875327
google	rs281875327
pharmgkb	rs281875327
gwascentral	rs281875327
openSNP	rs281875327
23andMe	rs281875327
SNPshot	rs281875327
SNPdbe	rs281875327
MSV3d	rs281875327
GWAS Ctlg	rs281875327

Max Magnitude

0

ClinVar
Risk	rs281875327(A;A)
Alt	rs281875327(A;A)
Reference	Rs281875327(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.79478408G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022425.27, RCV000059727.1,

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