rs121918038

Orientation

plus

Stabilized

plus

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

Make rs121918038(C;C)

Make rs121918038(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

129061759

Gene

GP9

is a	snp
is	mentioned by
dbSNP	rs121918038
dbSNP (classic)	rs121918038
ClinGen	rs121918038
ebi	rs121918038
HLI	rs121918038
Exac	rs121918038
Gnomad	rs121918038
Varsome	rs121918038
LitVar	rs121918038
Map	rs121918038
PheGenI	rs121918038
Biobank	rs121918038
1000 genomes	rs121918038
hgdp	rs121918038
ensembl	rs121918038
geneview	rs121918038
scholar	rs121918038
google	rs121918038
pharmgkb	rs121918038
gwascentral	rs121918038
openSNP	rs121918038
23andMe	rs121918038
SNPshot	rs121918038
SNPdbe	rs121918038
MSV3d	rs121918038
GWAS Ctlg	rs121918038

Max Magnitude

0

OMIM	173515
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918038(C;C)
Alt	rs121918038(C;C)
Reference	Rs121918038(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.128780602T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014489.24,