rs28933377

Orientation

plus

Stabilized

plus

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

Make rs28933377(C;C)

Make rs28933377(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

129061906

Gene

GP9

is a	snp
is	mentioned by
dbSNP	rs28933377
dbSNP (classic)	rs28933377
ClinGen	rs28933377
ebi	rs28933377
HLI	rs28933377
Exac	rs28933377
Gnomad	rs28933377
Varsome	rs28933377
LitVar	rs28933377
Map	rs28933377
PheGenI	rs28933377
Biobank	rs28933377
1000 genomes	rs28933377
hgdp	rs28933377
ensembl	rs28933377
geneview	rs28933377
scholar	rs28933377
google	rs28933377
pharmgkb	rs28933377
gwascentral	rs28933377
openSNP	rs28933377
23andMe	rs28933377
SNPshot	rs28933377
SNPdbe	rs28933377
MSV3d	rs28933377
GWAS Ctlg	rs28933377

Max Magnitude

0

OMIM	173515
Desc	BERNARD-SOULIER SYNDROME, TYPE C
Variant	0004
Related	also

ClinVar
Risk	rs28933377(C;C)
Alt	rs28933377(C;C)
Reference	Rs28933377(T;T)
Significance	Pathogenic
Disease	Bernard-Soulier syndrome type C
Variation	info
Gene	GP9
CLNDBN	Bernard-Soulier syndrome type C
Reversed	0
HGVS	NC_000003.11:g.128780749T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014487.18,