rs377244188
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs377244188(A;G) |
Make rs377244188(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 12810402 |
Gene | RNASEH2A |
is a | snp |
is | mentioned by |
dbSNP | rs377244188 |
dbSNP (classic) | rs377244188 |
ClinGen | rs377244188 |
ebi | rs377244188 |
HLI | rs377244188 |
Exac | rs377244188 |
Gnomad | rs377244188 |
Varsome | rs377244188 |
LitVar | rs377244188 |
Map | rs377244188 |
PheGenI | rs377244188 |
Biobank | rs377244188 |
1000 genomes | rs377244188 |
hgdp | rs377244188 |
ensembl | rs377244188 |
geneview | rs377244188 |
scholar | rs377244188 |
rs377244188 | |
pharmgkb | rs377244188 |
gwascentral | rs377244188 |
openSNP | rs377244188 |
23andMe | rs377244188 |
SNPshot | rs377244188 |
SNPdbe | rs377244188 |
MSV3d | rs377244188 |
GWAS Ctlg | rs377244188 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377244188(G;G) rs377244188(T;T) |
Alt | rs377244188(G;G) rs377244188(T;T) |
Reference | Rs377244188(A;A) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 4 |
Variation | info |
Gene | RNASEH2A |
CLNDBN | Aicardi Goutieres syndrome 4 |
Reversed | 0 |
HGVS | NC_000019.9:g.12921216A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000056306.3, |