rs387907350

Orientation

minus

Stabilized

minus

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

Make rs387907350(A;A)

Make rs387907350(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

68904658

Gene

ACTN1

is a	snp
is	mentioned by
dbSNP	rs387907350
dbSNP (classic)	rs387907350
ClinGen	rs387907350
ebi	rs387907350
HLI	rs387907350
Exac	rs387907350
Gnomad	rs387907350
Varsome	rs387907350
LitVar	rs387907350
Map	rs387907350
PheGenI	rs387907350
Biobank	rs387907350
1000 genomes	rs387907350
hgdp	rs387907350
ensembl	rs387907350
geneview	rs387907350
scholar	rs387907350
google	rs387907350
pharmgkb	rs387907350
gwascentral	rs387907350
openSNP	rs387907350
23andMe	rs387907350
SNPshot	rs387907350
SNPdbe	rs387907350
MSV3d	rs387907350
GWAS Ctlg	rs387907350

Max Magnitude

0

ClinVar
Risk	rs387907350(A;A)
Alt	rs387907350(A;A)
Reference	Rs387907350(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.69371375C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034871.28,