rs387907348

Orientation

minus

Stabilized

minus

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

Make rs387907348(A;A)

Make rs387907348(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

68925641

Gene

ACTN1

is a	snp
is	mentioned by
dbSNP	rs387907348
dbSNP (classic)	rs387907348
ClinGen	rs387907348
ebi	rs387907348
HLI	rs387907348
Exac	rs387907348
Gnomad	rs387907348
Varsome	rs387907348
LitVar	rs387907348
Map	rs387907348
PheGenI	rs387907348
Biobank	rs387907348
1000 genomes	rs387907348
hgdp	rs387907348
ensembl	rs387907348
geneview	rs387907348
scholar	rs387907348
google	rs387907348
pharmgkb	rs387907348
gwascentral	rs387907348
openSNP	rs387907348
23andMe	rs387907348
SNPshot	rs387907348
SNPdbe	rs387907348
MSV3d	rs387907348
GWAS Ctlg	rs387907348

Max Magnitude

0

ClinVar
Risk	rs387907348(A;A)
Alt	rs387907348(A;A)
Reference	Rs387907348(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.69392358C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034869.28,