rs121912494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912494(A;A) |
Make rs121912494(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156137209 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs121912494 |
dbSNP (classic) | rs121912494 |
ClinGen | rs121912494 |
ebi | rs121912494 |
HLI | rs121912494 |
Exac | rs121912494 |
Gnomad | rs121912494 |
Varsome | rs121912494 |
LitVar | rs121912494 |
Map | rs121912494 |
PheGenI | rs121912494 |
Biobank | rs121912494 |
1000 genomes | rs121912494 |
hgdp | rs121912494 |
ensembl | rs121912494 |
geneview | rs121912494 |
scholar | rs121912494 |
rs121912494 | |
pharmgkb | rs121912494 |
gwascentral | rs121912494 |
openSNP | rs121912494 |
23andMe | rs121912494 |
SNPshot | rs121912494 |
SNPdbe | rs121912494 |
MSV3d | rs121912494 |
GWAS Ctlg | rs121912494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912494(A;A) |
Alt | rs121912494(A;A) |
Reference | Rs121912494(G;G) |
Significance | Pathogenic |
Disease | Mandibuloacral dysostosis not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Mandibuloacral dysostosis not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156107000G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015619.26, RCV000057331.1, |