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rs63751273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63751273(C;T)
Make rs63751273(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position46010389
GeneMAPT
is asnp
is mentioned by
dbSNPrs63751273
dbSNP (classic)rs63751273
ClinGenrs63751273
ebirs63751273
HLIrs63751273
Exacrs63751273
Gnomadrs63751273
Varsomers63751273
LitVarrs63751273
Maprs63751273
PheGenIrs63751273
Biobankrs63751273
1000 genomesrs63751273
hgdprs63751273
ensemblrs63751273
geneviewrs63751273
scholarrs63751273
googlers63751273
pharmgkbrs63751273
gwascentralrs63751273
openSNPrs63751273
23andMers63751273
SNPshotrs63751273
SNPdbers63751273
MSV3drs63751273
GWAS Ctlgrs63751273
Max Magnitude0
OMIM157140
Desc
Variant0001
Relatedalso


ClinVar
Risk rs63751273(T;T)
Alt rs63751273(T;T)
Reference Rs63751273(C;C)
Significance Pathogenic
Disease Frontotemporal dementia Progressive supranuclear ophthalmoplegia not provided
Variation info
Gene MAPT
CLNDBN Frontotemporal dementia Progressive supranuclear ophthalmoplegia not provided
Reversed 0
HGVS NC_000017.10:g.44087755C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015313.25, RCV000015314.25, RCV000084527.1,