rs58732244
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs58732244(A;T) |
Make rs58732244(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44915258 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs58732244 |
dbSNP (classic) | rs58732244 |
ClinGen | rs58732244 |
ebi | rs58732244 |
HLI | rs58732244 |
Exac | rs58732244 |
Gnomad | rs58732244 |
Varsome | rs58732244 |
LitVar | rs58732244 |
Map | rs58732244 |
PheGenI | rs58732244 |
Biobank | rs58732244 |
1000 genomes | rs58732244 |
hgdp | rs58732244 |
ensembl | rs58732244 |
geneview | rs58732244 |
scholar | rs58732244 |
rs58732244 | |
pharmgkb | rs58732244 |
gwascentral | rs58732244 |
openSNP | rs58732244 |
23andMe | rs58732244 |
SNPshot | rs58732244 |
SNPdbe | rs58732244 |
MSV3d | rs58732244 |
GWAS Ctlg | rs58732244 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58732244(T;T) |
Alt | rs58732244(T;T) |
Reference | Rs58732244(A;A) |
Significance | Pathogenic |
Disease | Alexander's disease not provided |
Variation | info |
Gene | GFAP |
CLNDBN | Alexander's disease not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.42992626T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017558.26, RCV000056864.1, |