rs60652225
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs60652225(G;G) |
Make rs60652225(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156130679 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs60652225 |
dbSNP (classic) | rs60652225 |
ClinGen | rs60652225 |
ebi | rs60652225 |
HLI | rs60652225 |
Exac | rs60652225 |
Gnomad | rs60652225 |
Varsome | rs60652225 |
LitVar | rs60652225 |
Map | rs60652225 |
PheGenI | rs60652225 |
Biobank | rs60652225 |
1000 genomes | rs60652225 |
hgdp | rs60652225 |
ensembl | rs60652225 |
geneview | rs60652225 |
scholar | rs60652225 |
rs60652225 | |
pharmgkb | rs60652225 |
gwascentral | rs60652225 |
openSNP | rs60652225 |
23andMe | rs60652225 |
SNPshot | rs60652225 |
SNPdbe | rs60652225 |
MSV3d | rs60652225 |
GWAS Ctlg | rs60652225 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60652225(C;C) rs60652225(G;G) |
Alt | rs60652225(C;C) rs60652225(G;G) |
Reference | Rs60652225(T;T) |
Significance | Pathogenic |
Disease | not provided Hutchinson-Gilford progeria syndrome |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Hutchinson-Gilford progeria syndrome, childhood-onset |
Reversed | 0 |
HGVS | NC_000001.10:g.156100470T>C; NC_000001.10:g.156100470T>G |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000057402.1, RCV000015601.23, RCV000057403.1, |