rs63750129
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs63750129(A;C) |
Make rs63750129(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 45996612 |
Gene | MAPT |
is a | snp |
is | mentioned by |
dbSNP | rs63750129 |
dbSNP (classic) | rs63750129 |
ClinGen | rs63750129 |
ebi | rs63750129 |
HLI | rs63750129 |
Exac | rs63750129 |
Gnomad | rs63750129 |
Varsome | rs63750129 |
LitVar | rs63750129 |
Map | rs63750129 |
PheGenI | rs63750129 |
Biobank | rs63750129 |
1000 genomes | rs63750129 |
hgdp | rs63750129 |
ensembl | rs63750129 |
geneview | rs63750129 |
scholar | rs63750129 |
rs63750129 | |
pharmgkb | rs63750129 |
gwascentral | rs63750129 |
openSNP | rs63750129 |
23andMe | rs63750129 |
SNPshot | rs63750129 |
SNPdbe | rs63750129 |
MSV3d | rs63750129 |
GWAS Ctlg | rs63750129 |
Max Magnitude | 0 |
OMIM | 157140 |
Desc | Pick's disease |
Variant | 0015 |
Related | also |
ClinVar | |
---|---|
Risk | rs63750129(C;C) |
Alt | rs63750129(C;C) |
Reference | Rs63750129(A;A) |
Significance | Pathogenic |
Disease | Pick's disease not provided |
Variation | info |
Gene | MAPT |
CLNDBN | Pick's disease not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.44073978A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015328.26, RCV000084515.1, |