rs79907212
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs79907212(G;G) |
Make rs79907212(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 156135275 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs79907212 |
dbSNP (classic) | rs79907212 |
ClinGen | rs79907212 |
ebi | rs79907212 |
HLI | rs79907212 |
Exac | rs79907212 |
Gnomad | rs79907212 |
Varsome | rs79907212 |
LitVar | rs79907212 |
Map | rs79907212 |
PheGenI | rs79907212 |
Biobank | rs79907212 |
1000 genomes | rs79907212 |
hgdp | rs79907212 |
ensembl | rs79907212 |
geneview | rs79907212 |
scholar | rs79907212 |
rs79907212 | |
pharmgkb | rs79907212 |
gwascentral | rs79907212 |
openSNP | rs79907212 |
23andMe | rs79907212 |
SNPshot | rs79907212 |
SNPdbe | rs79907212 |
MSV3d | rs79907212 |
GWAS Ctlg | rs79907212 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79907212(C;C) rs79907212(G;G) |
Alt | rs79907212(C;C) rs79907212(G;G) |
Reference | Rs79907212(T;T) |
Significance | Pathogenic |
Disease | Hutchinson-Gilford progeria syndrome |
Variation | info |
Gene | LMNA |
CLNDBN | Hutchinson-Gilford progeria syndrome, atypical |
Reversed | 1 |
HGVS | NC_000001.10:g.156105066A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201431.2, |