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rs63750349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750349(C;G)
Make rs63750349(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position45996638
GeneMAPT
is asnp
is mentioned by
dbSNPrs63750349
dbSNP (classic)rs63750349
ClinGenrs63750349
ebirs63750349
HLIrs63750349
Exacrs63750349
Gnomadrs63750349
Varsomers63750349
LitVarrs63750349
Maprs63750349
PheGenIrs63750349
Biobankrs63750349
1000 genomesrs63750349
hgdprs63750349
ensemblrs63750349
geneviewrs63750349
scholarrs63750349
googlers63750349
pharmgkbrs63750349
gwascentralrs63750349
openSNPrs63750349
23andMers63750349
SNPshotrs63750349
SNPdbers63750349
MSV3drs63750349
GWAS Ctlgrs63750349
Max Magnitude0
OMIM157140
Desc
Variant0022
Relatedalso


ClinVar
Risk rs63750349(G;G) rs63750349(T;T)
Alt rs63750349(G;G) rs63750349(T;T)
Reference Rs63750349(C;C)
Significance Pathogenic
Disease Frontotemporal dementia not provided
Variation info
Gene MAPT
CLNDBN Frontotemporal dementia not provided
Reversed 0
HGVS NC_000017.10:g.44074004C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015336.26, RCV000084517.1,