rs397517889
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397517889(C;T) |
Make rs397517889(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156136093 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs397517889 |
dbSNP (classic) | rs397517889 |
ClinGen | rs397517889 |
ebi | rs397517889 |
HLI | rs397517889 |
Exac | rs397517889 |
Gnomad | rs397517889 |
Varsome | rs397517889 |
LitVar | rs397517889 |
Map | rs397517889 |
PheGenI | rs397517889 |
Biobank | rs397517889 |
1000 genomes | rs397517889 |
hgdp | rs397517889 |
ensembl | rs397517889 |
geneview | rs397517889 |
scholar | rs397517889 |
rs397517889 | |
pharmgkb | rs397517889 |
gwascentral | rs397517889 |
openSNP | rs397517889 |
23andMe | rs397517889 |
SNPshot | rs397517889 |
SNPdbe | rs397517889 |
MSV3d | rs397517889 |
GWAS Ctlg | rs397517889 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517889(T;T) |
Alt | rs397517889(T;T) |
Reference | Rs397517889(C;C) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | Primary dilated cardiomyopathy not provided Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.156105884C>T |
CLNSRC | ClinVar |
CLNACC | RCV000041308.3, RCV000223811.1, RCV000469099.1, |