rs57815192
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs57815192(A;G) |
Make rs57815192(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44911251 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs57815192 |
dbSNP (classic) | rs57815192 |
ClinGen | rs57815192 |
ebi | rs57815192 |
HLI | rs57815192 |
Exac | rs57815192 |
Gnomad | rs57815192 |
Varsome | rs57815192 |
LitVar | rs57815192 |
Map | rs57815192 |
PheGenI | rs57815192 |
Biobank | rs57815192 |
1000 genomes | rs57815192 |
hgdp | rs57815192 |
ensembl | rs57815192 |
geneview | rs57815192 |
scholar | rs57815192 |
rs57815192 | |
pharmgkb | rs57815192 |
gwascentral | rs57815192 |
openSNP | rs57815192 |
23andMe | rs57815192 |
SNPshot | rs57815192 |
SNPdbe | rs57815192 |
MSV3d | rs57815192 |
GWAS Ctlg | rs57815192 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57815192(G;G) rs57815192(T;T) |
Alt | rs57815192(G;G) rs57815192(T;T) |
Reference | Rs57815192(A;A) |
Significance | Pathogenic |
Disease | not provided Alexander's disease |
Variation | info |
Gene | GFAP |
CLNDBN | not provided Alexander's disease |
Reversed | 1 |
HGVS | NC_000017.10:g.42988619T>A; NC_000017.10:g.42988619T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056832.1, RCV000192171.1, RCV000056831.1, RCV000192170.1, |