rs121908065

Orientation

plus

Stabilized

plus

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

Make rs121908065(C;T)

Make rs121908065(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4933119

Gene

GP1BA

is a	snp
is	mentioned by
dbSNP	rs121908065
dbSNP (classic)	rs121908065
ClinGen	rs121908065
ebi	rs121908065
HLI	rs121908065
Exac	rs121908065
Gnomad	rs121908065
Varsome	rs121908065
LitVar	rs121908065
Map	rs121908065
PheGenI	rs121908065
Biobank	rs121908065
1000 genomes	rs121908065
hgdp	rs121908065
ensembl	rs121908065
geneview	rs121908065
scholar	rs121908065
google	rs121908065
pharmgkb	rs121908065
gwascentral	rs121908065
openSNP	rs121908065
23andMe	rs121908065
SNPshot	rs121908065
SNPdbe	rs121908065
MSV3d	rs121908065
GWAS Ctlg	rs121908065

Max Magnitude

0

OMIM	606672
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908065(T;T)
Alt	rs121908065(T;T)
Reference	Rs121908065(C;C)
Significance	Pathogenic
Disease	Bernard-Soulier syndrome Bernard-Soulier syndrome
Variation	info
Gene	GP1BA
CLNDBN	Bernard-Soulier syndrome, type A1 Bernard-Soulier syndrome, type A2, autosomal dominant
Reversed	0
HGVS	NC_000017.10:g.4836414C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004373.2, RCV000023565.2,