rs1057518685
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057518685(A;G) |
Make rs1057518685(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 44915272 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs1057518685 |
dbSNP (classic) | rs1057518685 |
ClinGen | rs1057518685 |
ebi | rs1057518685 |
HLI | rs1057518685 |
Exac | rs1057518685 |
Gnomad | rs1057518685 |
Varsome | rs1057518685 |
LitVar | rs1057518685 |
Map | rs1057518685 |
PheGenI | rs1057518685 |
Biobank | rs1057518685 |
1000 genomes | rs1057518685 |
hgdp | rs1057518685 |
ensembl | rs1057518685 |
geneview | rs1057518685 |
scholar | rs1057518685 |
rs1057518685 | |
pharmgkb | rs1057518685 |
gwascentral | rs1057518685 |
openSNP | rs1057518685 |
23andMe | rs1057518685 |
SNPshot | rs1057518685 |
SNPdbe | rs1057518685 |
MSV3d | rs1057518685 |
GWAS Ctlg | rs1057518685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518685(G;G) |
Alt | rs1057518685(G;G) |
Reference | Rs1057518685(A;A) |
Significance | Probable-Pathogenic |
Disease | Alexander's disease |
Variation | info |
Gene | GFAP |
CLNDBN | Alexander's disease |
Reversed | 1 |
HGVS | NC_000017.10:g.42992640T>C |
CLNSRC | |
CLNACC | RCV000414950.1, |