rs63751048
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs63751048(C;T) |
Make rs63751048(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 87253736 |
Gene | CHMP2B |
is a | snp |
is | mentioned by |
dbSNP | rs63751048 |
dbSNP (classic) | rs63751048 |
ClinGen | rs63751048 |
ebi | rs63751048 |
HLI | rs63751048 |
Exac | rs63751048 |
Gnomad | rs63751048 |
Varsome | rs63751048 |
LitVar | rs63751048 |
Map | rs63751048 |
PheGenI | rs63751048 |
Biobank | rs63751048 |
1000 genomes | rs63751048 |
hgdp | rs63751048 |
ensembl | rs63751048 |
geneview | rs63751048 |
scholar | rs63751048 |
rs63751048 | |
pharmgkb | rs63751048 |
gwascentral | rs63751048 |
openSNP | rs63751048 |
23andMe | rs63751048 |
SNPshot | rs63751048 |
SNPdbe | rs63751048 |
MSV3d | rs63751048 |
GWAS Ctlg | rs63751048 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63751048(T;T) |
Alt | rs63751048(T;T) |
Reference | Rs63751048(C;C) |
Significance | Pathogenic |
Disease | Frontotemporal Dementia not provided |
Variation | info |
Gene | CHMP2B |
CLNDBN | Frontotemporal Dementia, Chromosome 3-Linked not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.87302886C>T |
CLNSRC | ClinVar GeneReviews Neurodegenerative Brain Diseases Group |
CLNACC | RCV000020695.1, RCV000084278.1, |
[PMID 16954699] Genetic variability in CHMP2B and frontotemporal dementia.