rs75622274

Orientation

minus

Stabilized

minus

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

Make rs75622274(C;C)

Make rs75622274(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44381058

Gene

ITGA2B

is a	snp
is	mentioned by
dbSNP	rs75622274
dbSNP (classic)	rs75622274
ClinGen	rs75622274
ebi	rs75622274
HLI	rs75622274
Exac	rs75622274
Gnomad	rs75622274
Varsome	rs75622274
LitVar	rs75622274
Map	rs75622274
PheGenI	rs75622274
Biobank	rs75622274
1000 genomes	rs75622274
hgdp	rs75622274
ensembl	rs75622274
geneview	rs75622274
scholar	rs75622274
google	rs75622274
pharmgkb	rs75622274
gwascentral	rs75622274
openSNP	rs75622274
23andMe	rs75622274
SNPshot	rs75622274
SNPdbe	rs75622274
MSV3d	rs75622274
GWAS Ctlg	rs75622274

Max Magnitude

0

ClinVar
Risk	rs75622274(C;C)
Alt	rs75622274(C;C)
Reference	Rs75622274(T;T)
Significance	Pathogenic
Disease	Glanzmann's thrombasthenia
Variation	info
Gene	ITGA2B
CLNDBN	Glanzmann's thrombasthenia
Reversed	1
HGVS	NC_000017.10:g.42458426A>G
CLNSRC
CLNACC

[PMID 12083483] Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.