rs57661783
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs57661783(A;A) |
Make rs57661783(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44913421 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs57661783 |
dbSNP (classic) | rs57661783 |
ClinGen | rs57661783 |
ebi | rs57661783 |
HLI | rs57661783 |
Exac | rs57661783 |
Gnomad | rs57661783 |
Varsome | rs57661783 |
LitVar | rs57661783 |
Map | rs57661783 |
PheGenI | rs57661783 |
Biobank | rs57661783 |
1000 genomes | rs57661783 |
hgdp | rs57661783 |
ensembl | rs57661783 |
geneview | rs57661783 |
scholar | rs57661783 |
rs57661783 | |
pharmgkb | rs57661783 |
gwascentral | rs57661783 |
openSNP | rs57661783 |
23andMe | rs57661783 |
SNPshot | rs57661783 |
SNPdbe | rs57661783 |
MSV3d | rs57661783 |
GWAS Ctlg | rs57661783 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57661783(A;A) rs57661783(T;T) |
Alt | rs57661783(A;A) rs57661783(T;T) |
Reference | Rs57661783(G;G) |
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.42990789C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056894.1, RCV000192130.1, |