rs387907115

Orientation

plus

Stabilized

plus

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

Make rs387907115(C;T)

Make rs387907115(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

47004976

Gene

NBEAL2

is a	snp
is	mentioned by
dbSNP	rs387907115
dbSNP (classic)	rs387907115
ClinGen	rs387907115
ebi	rs387907115
HLI	rs387907115
Exac	rs387907115
Gnomad	rs387907115
Varsome	rs387907115
LitVar	rs387907115
Map	rs387907115
PheGenI	rs387907115
Biobank	rs387907115
1000 genomes	rs387907115
hgdp	rs387907115
ensembl	rs387907115
geneview	rs387907115
scholar	rs387907115
google	rs387907115
pharmgkb	rs387907115
gwascentral	rs387907115
openSNP	rs387907115
23andMe	rs387907115
SNPshot	rs387907115
SNPdbe	rs387907115
MSV3d	rs387907115
GWAS Ctlg	rs387907115

Max Magnitude

0

ClinVar
Risk	rs387907115(T;T)
Alt	rs387907115(T;T)
Reference	Rs387907115(C;C)
Significance	Pathogenic
Disease	Gray platelet syndrome
Variation	info
Gene	NBEAL2
CLNDBN	Gray platelet syndrome
Reversed	0
HGVS	NC_000003.11:g.47046466C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024116.4,