rs121918447

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	3	Likely miscall if from Ancestry data; otherwise, Glanzmann's thrombasthenia mutation(s)
(T;T)	0	common in clinvar

Make rs121918447(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

47310169

Gene	ITGB3, THCAT158

is a	snp
is	mentioned by
dbSNP	rs121918447
dbSNP (classic)	rs121918447
ClinGen	rs121918447
ebi	rs121918447
HLI	rs121918447
Exac	rs121918447
Gnomad	rs121918447
Varsome	rs121918447
LitVar	rs121918447
Map	rs121918447
PheGenI	rs121918447
Biobank	rs121918447
1000 genomes	rs121918447
hgdp	rs121918447
ensembl	rs121918447
geneview	rs121918447
scholar	rs121918447
google	rs121918447
pharmgkb	rs121918447
gwascentral	rs121918447
openSNP	rs121918447
23andMe	rs121918447
SNPshot	rs121918447
SNPdbe	rs121918447
MSV3d	rs121918447
GWAS Ctlg	rs121918447

Max Magnitude

3

OMIM	173470
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs121918447(C;C)
Alt	Rs121918447(C;C)
Reference	Rs121918447(T;T)
Significance	Pathogenic
Disease	Glanzmann thrombasthenia
Variation	info
Gene	ITGB3 THCAT158
CLNDBN	Glanzmann thrombasthenia
Reversed	0
HGVS	NC_000017.10:g.45387535T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014515.19,