rs113860699
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs113860699(A;A) |
Make rs113860699(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156138759 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs113860699 |
dbSNP (classic) | rs113860699 |
ClinGen | rs113860699 |
ebi | rs113860699 |
HLI | rs113860699 |
Exac | rs113860699 |
Gnomad | rs113860699 |
Varsome | rs113860699 |
LitVar | rs113860699 |
Map | rs113860699 |
PheGenI | rs113860699 |
Biobank | rs113860699 |
1000 genomes | rs113860699 |
hgdp | rs113860699 |
ensembl | rs113860699 |
geneview | rs113860699 |
scholar | rs113860699 |
rs113860699 | |
pharmgkb | rs113860699 |
gwascentral | rs113860699 |
openSNP | rs113860699 |
23andMe | rs113860699 |
SNPshot | rs113860699 |
SNPdbe | rs113860699 |
MSV3d | rs113860699 |
GWAS Ctlg | rs113860699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113860699(A;A) rs113860699(C;C) rs113860699(G;G) |
Alt | rs113860699(A;A) rs113860699(C;C) rs113860699(G;G) |
Reference | Rs113860699(T;T) |
Significance | Pathogenic |
Disease | Hutchinson-Gilford syndrome |
Variation | info |
Gene | LMNA |
CLNDBN | Hutchinson-Gilford syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.156108550T>A; NC_000001.10:g.156108550T>C |
CLNSRC | |
CLNACC | RCV000192017.1, RCV000192018.1, |