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rs606231166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs606231166(-;TTTAATTTGT)
Make rs606231166(TTTAATTTGT;TTTAATTTGT)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position48261218
GeneITM2B
is asnp
is mentioned by
dbSNPrs606231166
dbSNP (classic)rs606231166
ClinGenrs606231166
ebirs606231166
HLIrs606231166
Exacrs606231166
Gnomadrs606231166
Varsomers606231166
LitVarrs606231166
Maprs606231166
PheGenIrs606231166
Biobankrs606231166
1000 genomesrs606231166
hgdprs606231166
ensemblrs606231166
geneviewrs606231166
scholarrs606231166
googlers606231166
pharmgkbrs606231166
gwascentralrs606231166
openSNPrs606231166
23andMers606231166
SNPshotrs606231166
SNPdbers606231166
MSV3drs606231166
GWAS Ctlgrs606231166
Max Magnitude0
ClinVar
Risk rs606231166(TTTAATTTGT;TTTAATTTGT)
Alt rs606231166(TTTAATTTGT;TTTAATTTGT)
Reference Rs606231166(-;-)
Significance Pathogenic
Disease Dementia
Variation info
Gene ITM2B
CLNDBN Dementia, familial Danish
Reversed 0
HGVS NC_000013.10:g.48835345_48835354dupTTTAATTTGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006346.3,