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rs879255577

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TGGTGGGGCTTT;TGGTGGGGCTTT) 0 common in clinvar
Make rs879255577(GTTTGGCAG;GTTTGGCAG)
Make rs879255577(GTTTGGCAG;TGGTGGGGCTTT)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position96115464
GeneADRA2B
is asnp
is mentioned by
dbSNPrs879255577
dbSNP (old)rs879255577
ClinGenrs879255577
ebirs879255577
HLIrs879255577
Exacrs879255577
Gnomadrs879255577
Varsomers879255577
Maprs879255577
PheGenIrs879255577
Biobankrs879255577
1000 genomesrs879255577
hgdprs879255577
ensemblrs879255577
gopubmedrs879255577
geneviewrs879255577
scholarrs879255577
googlers879255577
pharmgkbrs879255577
gwascentralrs879255577
openSNPrs879255577
23andMers879255577
23andMe allrs879255577
SNP Nexus

SNPshotrs879255577
SNPdbers879255577
MSV3drs879255577
GWAS Ctlgrs879255577
Max Magnitude0
ClinVar
Risk rs879255577(GTTTGGCAG;GTTTGGCAG)
Alt rs879255577(GTTTGGCAG;GTTTGGCAG)
Reference Rs879255577(TGGTGGGGCTTT;TGGTGGGGCTTT)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene ADRA2B
CLNDBN Epilepsy, familial adult myoclonic 2
Reversed 1
HGVS NC_000002.11:g.96781203_96781214delAAAGCCCCACCAinsCTGCCAAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000172992.2,