rs77961246

Orientation

minus

Stabilized

minus

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

Make rs77961246(C;C)

Make rs77961246(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44377772

Gene

ITGA2B

is a	snp
is	mentioned by
dbSNP	rs77961246
dbSNP (classic)	rs77961246
ClinGen	rs77961246
ebi	rs77961246
HLI	rs77961246
Exac	rs77961246
Gnomad	rs77961246
Varsome	rs77961246
LitVar	rs77961246
Map	rs77961246
PheGenI	rs77961246
Biobank	rs77961246
1000 genomes	rs77961246
hgdp	rs77961246
ensembl	rs77961246
geneview	rs77961246
scholar	rs77961246
google	rs77961246
pharmgkb	rs77961246
gwascentral	rs77961246
openSNP	rs77961246
23andMe	rs77961246
SNPshot	rs77961246
SNPdbe	rs77961246
MSV3d	rs77961246
GWAS Ctlg	rs77961246

Max Magnitude

0

ClinVar
Risk	rs77961246(C;C)
Alt	rs77961246(C;C)
Reference	Rs77961246(T;T)
Significance	Pathogenic
Disease	Glanzmann's thrombasthenia
Variation	info
Gene	ITGA2B
CLNDBN	Glanzmann's thrombasthenia
Reversed	1
HGVS	NC_000017.10:g.42455140A>G
CLNSRC
CLNACC

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