rs587777446
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777446(C;T) |
Make rs587777446(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 162273913 |
Gene | IFIH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777446 |
dbSNP (classic) | rs587777446 |
ClinGen | rs587777446 |
ebi | rs587777446 |
HLI | rs587777446 |
Exac | rs587777446 |
Gnomad | rs587777446 |
Varsome | rs587777446 |
LitVar | rs587777446 |
Map | rs587777446 |
PheGenI | rs587777446 |
Biobank | rs587777446 |
1000 genomes | rs587777446 |
hgdp | rs587777446 |
ensembl | rs587777446 |
geneview | rs587777446 |
scholar | rs587777446 |
rs587777446 | |
pharmgkb | rs587777446 |
gwascentral | rs587777446 |
openSNP | rs587777446 |
23andMe | rs587777446 |
SNPshot | rs587777446 |
SNPdbe | rs587777446 |
MSV3d | rs587777446 |
GWAS Ctlg | rs587777446 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777446(C;C) rs587777446(T;T) |
Alt | Rs587777446(C;C) rs587777446(T;T) |
Reference | Rs587777446(G;G) |
Significance | Pathogenic |
Disease | Aicardi-goutieres syndrome 7 not provided |
Variation | info |
Gene | IFIH1 |
CLNDBN | Aicardi-goutieres syndrome 7 not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.163130423C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000125471.4, RCV000412770.1, |