rs63749877
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CACT;CACT) | 0 | common in clinvar |
(CTCA;CTCA) | 0 | common in clinvar |
(I;I) | 0 |
Make rs63749877(-;-) |
Make rs63749877(-;CACT) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44351141 |
Gene | GRN |
is a | snp |
is | mentioned by |
dbSNP | rs63749877 |
dbSNP (classic) | rs63749877 |
ClinGen | rs63749877 |
ebi | rs63749877 |
HLI | rs63749877 |
Exac | rs63749877 |
Gnomad | rs63749877 |
Varsome | rs63749877 |
LitVar | rs63749877 |
Map | rs63749877 |
PheGenI | rs63749877 |
Biobank | rs63749877 |
1000 genomes | rs63749877 |
hgdp | rs63749877 |
ensembl | rs63749877 |
geneview | rs63749877 |
scholar | rs63749877 |
rs63749877 | |
pharmgkb | rs63749877 |
gwascentral | rs63749877 |
openSNP | rs63749877 |
23andMe | rs63749877 |
SNPshot | rs63749877 |
SNPdbe | rs63749877 |
MSV3d | rs63749877 |
GWAS Ctlg | rs63749877 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63749877(-;-) |
Alt | rs63749877(-;-) |
Reference | Rs63749877(CTCA;CTCA) |
Significance | Pathogenic |
Disease | Frontotemporal dementia Primary progressive aphasia Ceroid lipofuscinosis not provided |
Variation | info |
Gene | GRN |
CLNDBN | Frontotemporal dementia, ubiquitin-positive Primary progressive aphasia Ceroid lipofuscinosis, neuronal, 11 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.42428509_42428512delCACT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017393.25, RCV000017394.28, RCV000029169.28, RCV000084585.1, |