rs267607640
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607640(A;A) |
Make rs267607640(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 156137029 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs267607640 |
dbSNP (classic) | rs267607640 |
ClinGen | rs267607640 |
ebi | rs267607640 |
HLI | rs267607640 |
Exac | rs267607640 |
Gnomad | rs267607640 |
Varsome | rs267607640 |
LitVar | rs267607640 |
Map | rs267607640 |
PheGenI | rs267607640 |
Biobank | rs267607640 |
1000 genomes | rs267607640 |
hgdp | rs267607640 |
ensembl | rs267607640 |
geneview | rs267607640 |
scholar | rs267607640 |
rs267607640 | |
pharmgkb | rs267607640 |
gwascentral | rs267607640 |
openSNP | rs267607640 |
23andMe | rs267607640 |
SNPshot | rs267607640 |
SNPdbe | rs267607640 |
MSV3d | rs267607640 |
GWAS Ctlg | rs267607640 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607640(A;A) |
Alt | rs267607640(A;A) |
Reference | Rs267607640(G;G) |
Significance | Pathogenic |
Disease | not provided Mandibuloacral dysostosis Limb-girdle muscular dystrophy |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Mandibuloacral dysostosis Limb-girdle muscular dystrophy, type 1B |
Reversed | 0 |
HGVS | NC_000001.10:g.156106820G>A |
CLNSRC | HGMD |
CLNACC | RCV000057305.3, RCV000180284.2, RCV000286225.1, |