rs267607632
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607632(A;A) |
Make rs267607632(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156134976 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs267607632 |
dbSNP (classic) | rs267607632 |
ClinGen | rs267607632 |
ebi | rs267607632 |
HLI | rs267607632 |
Exac | rs267607632 |
Gnomad | rs267607632 |
Varsome | rs267607632 |
LitVar | rs267607632 |
Map | rs267607632 |
PheGenI | rs267607632 |
Biobank | rs267607632 |
1000 genomes | rs267607632 |
hgdp | rs267607632 |
ensembl | rs267607632 |
geneview | rs267607632 |
scholar | rs267607632 |
rs267607632 | |
pharmgkb | rs267607632 |
gwascentral | rs267607632 |
openSNP | rs267607632 |
23andMe | rs267607632 |
SNPshot | rs267607632 |
SNPdbe | rs267607632 |
MSV3d | rs267607632 |
GWAS Ctlg | rs267607632 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607632(A;A) rs267607632(C;C) |
Alt | rs267607632(A;A) rs267607632(C;C) |
Reference | Rs267607632(G;G) |
Significance | Pathogenic |
Disease | not provided Charcot-Marie-Tooth disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy Congenital muscular dystrophy Limb-girdle muscular dystrophy |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Charcot-Marie-Tooth disease, type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Congenital muscular dystrophy, LMNA-related Limb-girdle muscular dystrophy, type 1B |
Reversed | 0 |
HGVS | NC_000001.10:g.156104767G>A; NC_000001.10:g.156104767G>C |
CLNSRC | |
CLNACC | RCV000057465.1, RCV000477527.1, RCV000199480.1, |