rs387907114

Orientation

plus

Stabilized

plus

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

Make rs387907114(A;T)

Make rs387907114(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46995743

Gene

NBEAL2

is a	snp
is	mentioned by
dbSNP	rs387907114
dbSNP (classic)	rs387907114
ClinGen	rs387907114
ebi	rs387907114
HLI	rs387907114
Exac	rs387907114
Gnomad	rs387907114
Varsome	rs387907114
LitVar	rs387907114
Map	rs387907114
PheGenI	rs387907114
Biobank	rs387907114
1000 genomes	rs387907114
hgdp	rs387907114
ensembl	rs387907114
geneview	rs387907114
scholar	rs387907114
google	rs387907114
pharmgkb	rs387907114
gwascentral	rs387907114
openSNP	rs387907114
23andMe	rs387907114
SNPshot	rs387907114
SNPdbe	rs387907114
MSV3d	rs387907114
GWAS Ctlg	rs387907114

Max Magnitude

0

ClinVar
Risk	rs387907114(T;T)
Alt	rs387907114(T;T)
Reference	Rs387907114(A;A)
Significance	Pathogenic
Disease	Gray platelet syndrome
Variation	info
Gene	NBEAL2
CLNDBN	Gray platelet syndrome
Reversed	0
HGVS	NC_000003.11:g.47037233A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024115.4,