rs267606849

Orientation

plus

Stabilized

plus

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

Make rs267606849(A;A)

Make rs267606849(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4934224

Gene

GP1BA

is a	snp
is	mentioned by
dbSNP	rs267606849
dbSNP (classic)	rs267606849
ClinGen	rs267606849
ebi	rs267606849
HLI	rs267606849
Exac	rs267606849
Gnomad	rs267606849
Varsome	rs267606849
LitVar	rs267606849
Map	rs267606849
PheGenI	rs267606849
Biobank	rs267606849
1000 genomes	rs267606849
hgdp	rs267606849
ensembl	rs267606849
geneview	rs267606849
scholar	rs267606849
google	rs267606849
pharmgkb	rs267606849
gwascentral	rs267606849
openSNP	rs267606849
23andMe	rs267606849
SNPshot	rs267606849
SNPdbe	rs267606849
MSV3d	rs267606849
GWAS Ctlg	rs267606849

Max Magnitude

0

ClinVar
Risk	rs267606849(A;A)
Alt	rs267606849(A;A)
Reference	Rs267606849(G;G)
Significance	Pathogenic
Disease	Bernard-Soulier syndrome
Variation	info
Gene	GP1BA
CLNDBN	Bernard-Soulier syndrome, type A1
Reversed	0
HGVS	NC_000017.10:g.4837519G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004374.2,