rs121909750

Orientation

plus

Stabilized

plus

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

Make rs121909750(A;G)

Make rs121909750(G;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

19724181

Gene	GP1BB, SEPT5-GP1BB

is a	snp
is	mentioned by
dbSNP	rs121909750
dbSNP (classic)	rs121909750
ClinGen	rs121909750
ebi	rs121909750
HLI	rs121909750
Exac	rs121909750
Gnomad	rs121909750
Varsome	rs121909750
LitVar	rs121909750
Map	rs121909750
PheGenI	rs121909750
Biobank	rs121909750
1000 genomes	rs121909750
hgdp	rs121909750
ensembl	rs121909750
geneview	rs121909750
scholar	rs121909750
google	rs121909750
pharmgkb	rs121909750
gwascentral	rs121909750
openSNP	rs121909750
23andMe	rs121909750
SNPshot	rs121909750
SNPdbe	rs121909750
MSV3d	rs121909750
GWAS Ctlg	rs121909750

Max Magnitude

0

OMIM	138720
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909750(G;G) rs121909750(T;T)
Alt	rs121909750(G;G) rs121909750(T;T)
Reference	Rs121909750(A;A)
Significance	Pathogenic
Disease	Macrothrombocytopenia not specified
Variation	info
Gene	SEPT5-GP1BB GP1BB
CLNDBN	Macrothrombocytopenia, familial, Bernard-Soulier type not specified
Reversed	0
HGVS	NC_000022.10:g.19711704A>G; NC_000022.10:g.19711704A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017413.26, RCV000324869.1,