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rs74664206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74664206(C;C)
Make rs74664206(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44374352
GeneITGA2B
is asnp
is mentioned by
dbSNPrs74664206
ebirs74664206
HLIrs74664206
Exacrs74664206
Varsomers74664206
Maprs74664206
PheGenIrs74664206
hapmaprs74664206
1000 genomesrs74664206
hgdprs74664206
ensemblrs74664206
gopubmedrs74664206
geneviewrs74664206
scholarrs74664206
googlers74664206
pharmgkbrs74664206
gwascentralrs74664206
openSNPrs74664206
23andMers74664206
23andMe allrs74664206
SNP Nexus

SNPshotrs74664206
SNPdbers74664206
MSV3drs74664206
GWAS Ctlgrs74664206
Max Magnitude0
ClinVar
Risk rs74664206(C;C)
Alt rs74664206(C;C)
Reference rs74664206(T;T)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42451720A>G
CLNSRC
CLNACC


[PMID 9215749] Hematologically important mutations: Glanzmann thrombasthenia.