rs75028796

Orientation

minus

Stabilized

minus

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

Make rs75028796(-;T)

Make rs75028796(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44378676

Gene

ITGA2B

is a	snp
is	mentioned by
dbSNP	rs75028796
dbSNP (classic)	rs75028796
ClinGen	rs75028796
ebi	rs75028796
HLI	rs75028796
Exac	rs75028796
Gnomad	rs75028796
Varsome	rs75028796
LitVar	rs75028796
Map	rs75028796
PheGenI	rs75028796
Biobank	rs75028796
1000 genomes	rs75028796
hgdp	rs75028796
ensembl	rs75028796
geneview	rs75028796
scholar	rs75028796
google	rs75028796
pharmgkb	rs75028796
gwascentral	rs75028796
openSNP	rs75028796
23andMe	rs75028796
SNPshot	rs75028796
SNPdbe	rs75028796
MSV3d	rs75028796
GWAS Ctlg	rs75028796

Max Magnitude

0

ClinVar
Risk	rs75028796(T;T)
Alt	rs75028796(T;T)
Reference	Rs75028796(;)
Significance	Pathogenic
Disease	Glanzmann's thrombasthenia
Variation	info
Gene	ITGA2B
CLNDBN	Glanzmann's thrombasthenia
Reversed	1
HGVS	NC_000017.10:g.42456044_42456045insA
CLNSRC
CLNACC

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