rs515726144
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CATGGATAGGAT;CATGGATAGGAT) | 0 | common in clinvar |
Make rs515726144(-;-) |
Make rs515726144(-;CATGGATAGGAT) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 36935168 |
Gene | SAMHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs515726144 |
dbSNP (classic) | rs515726144 |
ClinGen | rs515726144 |
ebi | rs515726144 |
HLI | rs515726144 |
Exac | rs515726144 |
Gnomad | rs515726144 |
Varsome | rs515726144 |
LitVar | rs515726144 |
Map | rs515726144 |
PheGenI | rs515726144 |
Biobank | rs515726144 |
1000 genomes | rs515726144 |
hgdp | rs515726144 |
ensembl | rs515726144 |
geneview | rs515726144 |
scholar | rs515726144 |
rs515726144 | |
pharmgkb | rs515726144 |
gwascentral | rs515726144 |
openSNP | rs515726144 |
23andMe | rs515726144 |
SNPshot | rs515726144 |
SNPdbe | rs515726144 |
MSV3d | rs515726144 |
GWAS Ctlg | rs515726144 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726144(-;-) |
Alt | rs515726144(-;-) |
Reference | Rs515726144(CATGGATAGGAT;CATGGATAGGAT) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 5 |
Variation | info |
Gene | SAMHD1 |
CLNDBN | Aicardi Goutieres syndrome 5 |
Reversed | 0 |
HGVS | NC_000020.10:g.35563571_35563582delCATGGATAGGAT |
CLNSRC | ClinVar |
CLNACC | RCV000114351.2, |