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rs63751391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63751391(G;T)
Make rs63751391(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position46010395
GeneMAPT
is asnp
is mentioned by
dbSNPrs63751391
dbSNP (classic)rs63751391
ClinGenrs63751391
ebirs63751391
HLIrs63751391
Exacrs63751391
Gnomadrs63751391
Varsomers63751391
LitVarrs63751391
Maprs63751391
PheGenIrs63751391
Biobankrs63751391
1000 genomesrs63751391
hgdprs63751391
ensemblrs63751391
geneviewrs63751391
scholarrs63751391
googlers63751391
pharmgkbrs63751391
gwascentralrs63751391
openSNPrs63751391
23andMers63751391
SNPshotrs63751391
SNPdbers63751391
MSV3drs63751391
GWAS Ctlgrs63751391
Max Magnitude0
OMIM157140
Desc
Variant0025
Relatedalso


ClinVar
Risk rs63751391(T;T)
Alt rs63751391(T;T)
Reference Rs63751391(G;G)
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.44087761G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015339.22, RCV000084529.1,