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rs63750425

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750425(C;T)
Make rs63750425(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position46018675
GeneMAPT
is asnp
is mentioned by
dbSNPrs63750425
dbSNP (classic)rs63750425
ClinGenrs63750425
ebirs63750425
HLIrs63750425
Exacrs63750425
Gnomadrs63750425
Varsomers63750425
LitVarrs63750425
Maprs63750425
PheGenIrs63750425
Biobankrs63750425
1000 genomesrs63750425
hgdprs63750425
ensemblrs63750425
geneviewrs63750425
scholarrs63750425
googlers63750425
pharmgkbrs63750425
gwascentralrs63750425
openSNPrs63750425
23andMers63750425
SNPshotrs63750425
SNPdbers63750425
MSV3drs63750425
GWAS Ctlgrs63750425
Max Magnitude0
OMIM157140
Desc
Variant0023
Relatedalso


ClinVar
Risk rs63750425(T;T)
Alt rs63750425(T;T)
Reference Rs63750425(C;C)
Significance Pathogenic
Disease Progressive supranuclear ophthalmoplegia not provided
Variation info
Gene MAPT
CLNDBN Progressive supranuclear ophthalmoplegia not provided
Reversed 0
HGVS NC_000017.10:g.44096041C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015337.26, RCV000084550.1,