Have questions? Visit https://www.reddit.com/r/SNPedia

rs76572092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TACTGTGGTG;TACTGTGGTG) 0 common in clinvar
Make rs76572092(-;-)
Make rs76572092(-;TACTGTGGTG)
ReferenceGRCh38 38.1/141
Chromosome17
Position44375082
GeneITGA2B
is asnp
is mentioned by
dbSNPrs76572092
dbSNP (classic)rs76572092
ClinGenrs76572092
ebirs76572092
HLIrs76572092
Exacrs76572092
Gnomadrs76572092
Varsomers76572092
LitVarrs76572092
Maprs76572092
PheGenIrs76572092
Biobankrs76572092
1000 genomesrs76572092
hgdprs76572092
ensemblrs76572092
geneviewrs76572092
scholarrs76572092
googlers76572092
pharmgkbrs76572092
gwascentralrs76572092
openSNPrs76572092
23andMers76572092
SNPshotrs76572092
SNPdbers76572092
MSV3drs76572092
GWAS Ctlgrs76572092
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs76572092(TACTGTGGTG;TACTGTGGTG)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42452450_42452459delCACCACAGTA
CLNSRC
CLNACC