rs397515470

Orientation

minus

Stabilized

minus

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

Make rs397515470(A;A)

Make rs397515470(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5529175

Gene

ACTB

is a	snp
is	mentioned by
dbSNP	rs397515470
dbSNP (classic)	rs397515470
ClinGen	rs397515470
ebi	rs397515470
HLI	rs397515470
Exac	rs397515470
Gnomad	rs397515470
Varsome	rs397515470
LitVar	rs397515470
Map	rs397515470
PheGenI	rs397515470
Biobank	rs397515470
1000 genomes	rs397515470
hgdp	rs397515470
ensembl	rs397515470
geneview	rs397515470
scholar	rs397515470
google	rs397515470
pharmgkb	rs397515470
gwascentral	rs397515470
openSNP	rs397515470
23andMe	rs397515470
SNPshot	rs397515470
SNPdbe	rs397515470
MSV3d	rs397515470
GWAS Ctlg	rs397515470

Max Magnitude

0

ClinVar
Risk	rs397515470(A;A)
Alt	rs397515470(A;A)
Reference	Rs397515470(G;G)
Significance	Pathogenic
Disease	Baraitser-Winter syndrome 1
Variation	info
Gene	ACTB
CLNDBN	Baraitser-Winter syndrome 1
Reversed	1
HGVS	NC_000007.13:g.5568806C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000056289.27,