rs61064130
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61064130(A;A) |
Make rs61064130(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156138611 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs61064130 |
dbSNP (classic) | rs61064130 |
ClinGen | rs61064130 |
ebi | rs61064130 |
HLI | rs61064130 |
Exac | rs61064130 |
Gnomad | rs61064130 |
Varsome | rs61064130 |
LitVar | rs61064130 |
Map | rs61064130 |
PheGenI | rs61064130 |
Biobank | rs61064130 |
1000 genomes | rs61064130 |
hgdp | rs61064130 |
ensembl | rs61064130 |
geneview | rs61064130 |
scholar | rs61064130 |
rs61064130 | |
pharmgkb | rs61064130 |
gwascentral | rs61064130 |
openSNP | rs61064130 |
23andMe | rs61064130 |
SNPshot | rs61064130 |
SNPdbe | rs61064130 |
MSV3d | rs61064130 |
GWAS Ctlg | rs61064130 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61064130(A;A) |
Alt | rs61064130(A;A) |
Reference | Rs61064130(G;G) |
Significance | Pathogenic |
Disease | Hutchinson-Gilford syndrome not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Hutchinson-Gilford syndrome not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156108402G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015595.26, RCV000057363.1, |