rs78705193
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs78705193(-;CG) |
Make rs78705193(CG;CG) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 12813162 |
Gene | RNASEH2A |
is a | snp |
is | mentioned by |
dbSNP | rs78705193 |
dbSNP (classic) | rs78705193 |
ClinGen | rs78705193 |
ebi | rs78705193 |
HLI | rs78705193 |
Exac | rs78705193 |
Gnomad | rs78705193 |
Varsome | rs78705193 |
LitVar | rs78705193 |
Map | rs78705193 |
PheGenI | rs78705193 |
Biobank | rs78705193 |
1000 genomes | rs78705193 |
hgdp | rs78705193 |
ensembl | rs78705193 |
geneview | rs78705193 |
scholar | rs78705193 |
rs78705193 | |
pharmgkb | rs78705193 |
gwascentral | rs78705193 |
openSNP | rs78705193 |
23andMe | rs78705193 |
SNPshot | rs78705193 |
SNPdbe | rs78705193 |
MSV3d | rs78705193 |
GWAS Ctlg | rs78705193 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78705193(GC;GC) |
Alt | rs78705193(GC;GC) |
Reference | Rs78705193(-;-) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 4 |
Variation | info |
Gene | RNASEH2A |
CLNDBN | Aicardi Goutieres syndrome 4 |
Reversed | 0 |
HGVS | NC_000019.9:g.12923975_12923976dupGC |
CLNSRC | ClinVar |
CLNACC | RCV000114340.2, |