rs267607551
From SNPedia
Merged into | rs267607540 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs267607551(-;-) |
Make rs267607551(-;GAA) |
Make rs267607551(GAA;GAA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156134513 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs267607551 |
dbSNP (classic) | rs267607551 |
ClinGen | rs267607551 |
ebi | rs267607551 |
HLI | rs267607551 |
Exac | rs267607551 |
Gnomad | rs267607551 |
Varsome | rs267607551 |
LitVar | rs267607551 |
Map | rs267607551 |
PheGenI | rs267607551 |
Biobank | rs267607551 |
1000 genomes | rs267607551 |
hgdp | rs267607551 |
ensembl | rs267607551 |
geneview | rs267607551 |
scholar | rs267607551 |
rs267607551 | |
pharmgkb | rs267607551 |
gwascentral | rs267607551 |
openSNP | rs267607551 |
23andMe | rs267607551 |
SNPshot | rs267607551 |
SNPdbe | rs267607551 |
MSV3d | rs267607551 |
GWAS Ctlg | rs267607551 |
Status | Merged into rs267607540 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs267607551(AGA;AGA) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Limb-girdle muscular dystrophy, type 1B not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156104304_156104306delGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015588.26, RCV000057433.2, |