rs387907347

Orientation

minus

Stabilized

minus

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

Make rs387907347(A;A)

Make rs387907347(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

68879987

Gene

ACTN1

is a	snp
is	mentioned by
dbSNP	rs387907347
dbSNP (classic)	rs387907347
ClinGen	rs387907347
ebi	rs387907347
HLI	rs387907347
Exac	rs387907347
Gnomad	rs387907347
Varsome	rs387907347
LitVar	rs387907347
Map	rs387907347
PheGenI	rs387907347
Biobank	rs387907347
1000 genomes	rs387907347
hgdp	rs387907347
ensembl	rs387907347
geneview	rs387907347
scholar	rs387907347
google	rs387907347
pharmgkb	rs387907347
gwascentral	rs387907347
openSNP	rs387907347
23andMe	rs387907347
SNPshot	rs387907347
SNPdbe	rs387907347
MSV3d	rs387907347
GWAS Ctlg	rs387907347

Max Magnitude

0

ClinVar
Risk	rs387907347(A;A)
Alt	rs387907347(A;A)
Reference	Rs387907347(G;G)
Significance	Pathogenic
Disease	Platelet-type bleeding disorder 15
Variation	info
Gene	ACTN1
CLNDBN	Platelet-type bleeding disorder 15
Reversed	1
HGVS	NC_000014.8:g.69346704C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034868.28,