rs60310264
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs60310264(A;A) |
Make rs60310264(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156130693 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs60310264 |
dbSNP (classic) | rs60310264 |
ClinGen | rs60310264 |
ebi | rs60310264 |
HLI | rs60310264 |
Exac | rs60310264 |
Gnomad | rs60310264 |
Varsome | rs60310264 |
LitVar | rs60310264 |
Map | rs60310264 |
PheGenI | rs60310264 |
Biobank | rs60310264 |
1000 genomes | rs60310264 |
hgdp | rs60310264 |
ensembl | rs60310264 |
geneview | rs60310264 |
scholar | rs60310264 |
rs60310264 | |
pharmgkb | rs60310264 |
gwascentral | rs60310264 |
openSNP | rs60310264 |
23andMe | rs60310264 |
SNPshot | rs60310264 |
SNPdbe | rs60310264 |
MSV3d | rs60310264 |
GWAS Ctlg | rs60310264 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60310264(A;A) |
Alt | rs60310264(A;A) |
Reference | Rs60310264(G;G) |
Significance | Pathogenic |
Disease | Hutchinson-Gilford progeria syndrome not provided Hutchinson-Gilford syndrome |
Variation | info |
Gene | LMNA |
CLNDBN | Hutchinson-Gilford progeria syndrome, atypical not provided Hutchinson-Gilford syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.156100484G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015596.22, RCV000057406.1, RCV000192009.1, |