rs5030764

Orientation

plus

Stabilized

plus

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

Make rs5030764(A;G)

Make rs5030764(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

129061921

Gene

GP9

is a	snp
is	mentioned by
dbSNP	rs5030764
dbSNP (classic)	rs5030764
ClinGen	rs5030764
ebi	rs5030764
HLI	rs5030764
Exac	rs5030764
Gnomad	rs5030764
Varsome	rs5030764
LitVar	rs5030764
Map	rs5030764
PheGenI	rs5030764
Biobank	rs5030764
1000 genomes	rs5030764
hgdp	rs5030764
ensembl	rs5030764
geneview	rs5030764
scholar	rs5030764
google	rs5030764
pharmgkb	rs5030764
gwascentral	rs5030764
openSNP	rs5030764
23andMe	rs5030764
SNPshot	rs5030764
SNPdbe	rs5030764
MSV3d	rs5030764
GWAS Ctlg	rs5030764

Max Magnitude

0

OMIM	173515
Desc
Variant	0001
Related	also

ClinVar
Risk	rs5030764(G;G)
Alt	rs5030764(G;G)
Reference	Rs5030764(A;A)
Significance	Other
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.128780764A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014484.24, RCV000275909.1,