rs113436208
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113436208(C;C) |
Make rs113436208(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156138758 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs113436208 |
dbSNP (classic) | rs113436208 |
ClinGen | rs113436208 |
ebi | rs113436208 |
HLI | rs113436208 |
Exac | rs113436208 |
Gnomad | rs113436208 |
Varsome | rs113436208 |
LitVar | rs113436208 |
Map | rs113436208 |
PheGenI | rs113436208 |
Biobank | rs113436208 |
1000 genomes | rs113436208 |
hgdp | rs113436208 |
ensembl | rs113436208 |
geneview | rs113436208 |
scholar | rs113436208 |
rs113436208 | |
pharmgkb | rs113436208 |
gwascentral | rs113436208 |
openSNP | rs113436208 |
23andMe | rs113436208 |
SNPshot | rs113436208 |
SNPdbe | rs113436208 |
MSV3d | rs113436208 |
GWAS Ctlg | rs113436208 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113436208(A;A) rs113436208(C;C) |
Alt | rs113436208(A;A) rs113436208(C;C) |
Reference | Rs113436208(G;G) |
Significance | Pathogenic |
Disease | Lethal tight skin contracture syndrome Hutchinson-Gilford syndrome not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Lethal tight skin contracture syndrome Hutchinson-Gilford syndrome not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156108549G>A; NC_000001.10:g.156108549G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015606.27, RCV000015607.28, RCV000057377.1, RCV000192016.1, |