rs59885338
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs59885338(C;T) |
Make rs59885338(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156135268 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs59885338 |
dbSNP (classic) | rs59885338 |
ClinGen | rs59885338 |
ebi | rs59885338 |
HLI | rs59885338 |
Exac | rs59885338 |
Gnomad | rs59885338 |
Varsome | rs59885338 |
LitVar | rs59885338 |
Map | rs59885338 |
PheGenI | rs59885338 |
Biobank | rs59885338 |
1000 genomes | rs59885338 |
hgdp | rs59885338 |
ensembl | rs59885338 |
geneview | rs59885338 |
scholar | rs59885338 |
rs59885338 | |
pharmgkb | rs59885338 |
gwascentral | rs59885338 |
openSNP | rs59885338 |
23andMe | rs59885338 |
SNPshot | rs59885338 |
SNPdbe | rs59885338 |
MSV3d | rs59885338 |
GWAS Ctlg | rs59885338 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59885338(T;T) |
Alt | rs59885338(T;T) |
Reference | Rs59885338(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2B1 not provided Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | Charcot-Marie-Tooth disease type 2B1 not provided Charcot-Marie-Tooth disease |
Reversed | 0 |
HGVS | NC_000001.10:g.156105059C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015590.24, RCV000057479.1, RCV000192238.1, |