rs61622935
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61622935(C;T) |
Make rs61622935(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44915225 |
Gene | GFAP |
is a | snp |
is | mentioned by |
dbSNP | rs61622935 |
dbSNP (classic) | rs61622935 |
ClinGen | rs61622935 |
ebi | rs61622935 |
HLI | rs61622935 |
Exac | rs61622935 |
Gnomad | rs61622935 |
Varsome | rs61622935 |
LitVar | rs61622935 |
Map | rs61622935 |
PheGenI | rs61622935 |
Biobank | rs61622935 |
1000 genomes | rs61622935 |
hgdp | rs61622935 |
ensembl | rs61622935 |
geneview | rs61622935 |
scholar | rs61622935 |
rs61622935 | |
pharmgkb | rs61622935 |
gwascentral | rs61622935 |
openSNP | rs61622935 |
23andMe | rs61622935 |
SNPshot | rs61622935 |
SNPdbe | rs61622935 |
MSV3d | rs61622935 |
GWAS Ctlg | rs61622935 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61622935(A;A) rs61622935(T;T) |
Alt | rs61622935(A;A) rs61622935(T;T) |
Reference | Rs61622935(C;C) |
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.42992593G>A; NC_000017.10:g.42992593G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017555.28, RCV000056879.2, RCV000017556.28, RCV000056878.1, |