rs28933378

Orientation

plus

Stabilized

plus

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

Make rs28933378(C;C)

Make rs28933378(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

129061809

Gene

GP9

is a	snp
is	mentioned by
dbSNP	rs28933378
dbSNP (classic)	rs28933378
ClinGen	rs28933378
ebi	rs28933378
HLI	rs28933378
Exac	rs28933378
Gnomad	rs28933378
Varsome	rs28933378
LitVar	rs28933378
Map	rs28933378
PheGenI	rs28933378
Biobank	rs28933378
1000 genomes	rs28933378
hgdp	rs28933378
ensembl	rs28933378
geneview	rs28933378
scholar	rs28933378
google	rs28933378
pharmgkb	rs28933378
gwascentral	rs28933378
openSNP	rs28933378
23andMe	rs28933378
SNPshot	rs28933378
SNPdbe	rs28933378
MSV3d	rs28933378
GWAS Ctlg	rs28933378

Max Magnitude

0

OMIM	173515
Desc	BERNARD-SOULIER SYNDROME, TYPE C
Variant	0005
Related	also

ClinVar
Risk	rs28933378(C;C)
Alt	rs28933378(C;C)
Reference	Rs28933378(T;T)
Significance	Pathogenic
Disease	Bernard-Soulier syndrome type C Bernard Soulier syndrome
Variation	info
Gene	GP9
CLNDBN	Bernard-Soulier syndrome type C Bernard Soulier syndrome
Reversed	0
HGVS	NC_000003.11:g.128780652T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014488.25, RCV000177000.1,