rs121908063

Orientation

plus

Stabilized

plus

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

Make rs121908063(C;T)

Make rs121908063(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4932821

Gene

GP1BA

is a	snp
is	mentioned by
dbSNP	rs121908063
dbSNP (classic)	rs121908063
ClinGen	rs121908063
ebi	rs121908063
HLI	rs121908063
Exac	rs121908063
Gnomad	rs121908063
Varsome	rs121908063
LitVar	rs121908063
Map	rs121908063
PheGenI	rs121908063
Biobank	rs121908063
1000 genomes	rs121908063
hgdp	rs121908063
ensembl	rs121908063
geneview	rs121908063
scholar	rs121908063
google	rs121908063
pharmgkb	rs121908063
gwascentral	rs121908063
openSNP	rs121908063
23andMe	rs121908063
SNPshot	rs121908063
SNPdbe	rs121908063
MSV3d	rs121908063
GWAS Ctlg	rs121908063

Max Magnitude

0

OMIM	606672
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908063(T;T)
Alt	rs121908063(T;T)
Reference	Rs121908063(C;C)
Significance	Pathogenic
Disease	Bernard-Soulier syndrome
Variation	info
Gene	GP1BA
CLNDBN	Bernard-Soulier syndrome, type A2, autosomal dominant
Reversed	0
HGVS	NC_000017.10:g.4836116C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004371.2,