rs387907113

Orientation

plus

Stabilized

plus

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

Make rs387907113(C;C)

Make rs387907113(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46993986

Gene

NBEAL2

is a	snp
is	mentioned by
dbSNP	rs387907113
dbSNP (classic)	rs387907113
ClinGen	rs387907113
ebi	rs387907113
HLI	rs387907113
Exac	rs387907113
Gnomad	rs387907113
Varsome	rs387907113
LitVar	rs387907113
Map	rs387907113
PheGenI	rs387907113
Biobank	rs387907113
1000 genomes	rs387907113
hgdp	rs387907113
ensembl	rs387907113
geneview	rs387907113
scholar	rs387907113
google	rs387907113
pharmgkb	rs387907113
gwascentral	rs387907113
openSNP	rs387907113
23andMe	rs387907113
SNPshot	rs387907113
SNPdbe	rs387907113
MSV3d	rs387907113
GWAS Ctlg	rs387907113

Max Magnitude

0

ClinVar
Risk	rs387907113(C;C)
Alt	rs387907113(C;C)
Reference	Rs387907113(T;T)
Significance	Pathogenic
Disease	Gray platelet syndrome
Variation	info
Gene	NBEAL2
CLNDBN	Gray platelet syndrome
Reversed	0
HGVS	NC_000003.11:g.47035476T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024114.4,