rs387907345

Orientation

minus

Stabilized

minus

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

Make rs387907345(A;A)

Make rs387907345(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

68921033

Gene

ACTN1

is a	snp
is	mentioned by
dbSNP	rs387907345
dbSNP (classic)	rs387907345
ClinGen	rs387907345
ebi	rs387907345
HLI	rs387907345
Exac	rs387907345
Gnomad	rs387907345
Varsome	rs387907345
LitVar	rs387907345
Map	rs387907345
PheGenI	rs387907345
Biobank	rs387907345
1000 genomes	rs387907345
hgdp	rs387907345
ensembl	rs387907345
geneview	rs387907345
scholar	rs387907345
google	rs387907345
pharmgkb	rs387907345
gwascentral	rs387907345
openSNP	rs387907345
23andMe	rs387907345
SNPshot	rs387907345
SNPdbe	rs387907345
MSV3d	rs387907345
GWAS Ctlg	rs387907345

Max Magnitude

0

ClinVar
Risk	rs387907345(A;A)
Alt	rs387907345(A;A)
Reference	Rs387907345(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.69387750C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034866.28,