rs387907346

Orientation

minus

Stabilized

minus

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

Make rs387907346(A;A)

Make rs387907346(A;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

68978963

Gene	ACTN1, ACTN1-AS1

is a	snp
is	mentioned by
dbSNP	rs387907346
dbSNP (classic)	rs387907346
ClinGen	rs387907346
ebi	rs387907346
HLI	rs387907346
Exac	rs387907346
Gnomad	rs387907346
Varsome	rs387907346
LitVar	rs387907346
Map	rs387907346
PheGenI	rs387907346
Biobank	rs387907346
1000 genomes	rs387907346
hgdp	rs387907346
ensembl	rs387907346
geneview	rs387907346
scholar	rs387907346
google	rs387907346
pharmgkb	rs387907346
gwascentral	rs387907346
openSNP	rs387907346
23andMe	rs387907346
SNPshot	rs387907346
SNPdbe	rs387907346
MSV3d	rs387907346
GWAS Ctlg	rs387907346

Max Magnitude

0

ClinVar
Risk	rs387907346(A;A)
Alt	rs387907346(A;A)
Reference	Rs387907346(C;C)
Significance	Pathogenic
Disease	Platelet-type bleeding disorder 15
Variation	info
Gene	ACTN1 ACTN1-AS1
CLNDBN	Platelet-type bleeding disorder 15
Reversed	1
HGVS	NC_000014.8:g.69445680G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034867.28,