rs587779774

Orientation

minus

Stabilized

minus

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

Make rs587779774(C;T)

Make rs587779774(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

5529165

Gene

ACTB

is a	snp
is	mentioned by
dbSNP	rs587779774
dbSNP (classic)	rs587779774
ClinGen	rs587779774
ebi	rs587779774
HLI	rs587779774
Exac	rs587779774
Gnomad	rs587779774
Varsome	rs587779774
LitVar	rs587779774
Map	rs587779774
PheGenI	rs587779774
Biobank	rs587779774
1000 genomes	rs587779774
hgdp	rs587779774
ensembl	rs587779774
geneview	rs587779774
scholar	rs587779774
google	rs587779774
pharmgkb	rs587779774
gwascentral	rs587779774
openSNP	rs587779774
23andMe	rs587779774
SNPshot	rs587779774
SNPdbe	rs587779774
MSV3d	rs587779774
GWAS Ctlg	rs587779774

Max Magnitude

0

ClinVar
Risk	rs587779774(T;T)
Alt	rs587779774(T;T)
Reference	Rs587779774(C;C)
Significance	Pathogenic
Disease	Baraitser-Winter syndrome 1
Variation	info
Gene	ACTB
CLNDBN	Baraitser-Winter syndrome 1
Reversed	1
HGVS	NC_000007.13:g.5568796G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000133571.3,