rs75718910
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs75718910(A;A) |
Make rs75718910(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 12813149 |
Gene | RNASEH2A |
is a | snp |
is | mentioned by |
dbSNP | rs75718910 |
dbSNP (classic) | rs75718910 |
ClinGen | rs75718910 |
ebi | rs75718910 |
HLI | rs75718910 |
Exac | rs75718910 |
Gnomad | rs75718910 |
Varsome | rs75718910 |
LitVar | rs75718910 |
Map | rs75718910 |
PheGenI | rs75718910 |
Biobank | rs75718910 |
1000 genomes | rs75718910 |
hgdp | rs75718910 |
ensembl | rs75718910 |
geneview | rs75718910 |
scholar | rs75718910 |
rs75718910 | |
pharmgkb | rs75718910 |
gwascentral | rs75718910 |
openSNP | rs75718910 |
23andMe | rs75718910 |
SNPshot | rs75718910 |
SNPdbe | rs75718910 |
MSV3d | rs75718910 |
GWAS Ctlg | rs75718910 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75718910(A;A) |
Alt | rs75718910(A;A) |
Reference | Rs75718910(G;G) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 4 |
Variation | info |
Gene | RNASEH2A |
CLNDBN | Aicardi Goutieres syndrome 4 |
Reversed | 0 |
HGVS | NC_000019.9:g.12923963G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000056303.5, |