rs63750959

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs63750959(A;A)

Make rs63750959(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

45962351

Gene

MAPT

is a	snp
is	mentioned by
dbSNP	rs63750959
dbSNP (classic)	rs63750959
ClinGen	rs63750959
ebi	rs63750959
HLI	rs63750959
Exac	rs63750959
Gnomad	rs63750959
Varsome	rs63750959
LitVar	rs63750959
Map	rs63750959
PheGenI	rs63750959
Biobank	rs63750959
1000 genomes	rs63750959
hgdp	rs63750959
ensembl	rs63750959
geneview	rs63750959
scholar	rs63750959
google	rs63750959
pharmgkb	rs63750959
gwascentral	rs63750959
openSNP	rs63750959
23andMe	rs63750959
SNPshot	rs63750959
SNPdbe	rs63750959
MSV3d	rs63750959
GWAS Ctlg	rs63750959

GMAF

0.0009183

Max Magnitude

0

OMIM	157140
Desc
Variant	0017
Related	also

OMIM	157140
Desc
Variant	0019
Related	also

ClinVar
Risk	rs63750959(A;A) rs63750959(T;T)
Alt	rs63750959(A;A) rs63750959(T;T)
Reference	Rs63750959(G;G)
Significance	Pathogenic
Disease	Frontotemporal dementia MAPT-Related Spectrum Disorders Progressive supranuclear ophthalmoplegia not provided
Variation	info
Gene	MAPT
CLNDBN	Frontotemporal dementia MAPT-Related Spectrum Disorders Progressive supranuclear ophthalmoplegia not provided
Reversed	0
HGVS	NC_000017.10:g.44039717G>A; NC_000017.10:g.44039717G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015330.26, RCV000266864.1, RCV000015332.25, RCV000084498.1,