rs142191737
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs142191737(A;A) |
Make rs142191737(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 156137679 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs142191737 |
dbSNP (classic) | rs142191737 |
ClinGen | rs142191737 |
ebi | rs142191737 |
HLI | rs142191737 |
Exac | rs142191737 |
Gnomad | rs142191737 |
Varsome | rs142191737 |
LitVar | rs142191737 |
Map | rs142191737 |
PheGenI | rs142191737 |
Biobank | rs142191737 |
1000 genomes | rs142191737 |
hgdp | rs142191737 |
ensembl | rs142191737 |
geneview | rs142191737 |
scholar | rs142191737 |
rs142191737 | |
pharmgkb | rs142191737 |
gwascentral | rs142191737 |
openSNP | rs142191737 |
23andMe | rs142191737 |
SNPshot | rs142191737 |
SNPdbe | rs142191737 |
MSV3d | rs142191737 |
GWAS Ctlg | rs142191737 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142191737(A;A) |
Alt | rs142191737(A;A) |
Reference | Rs142191737(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Peripheral neuropathy Charcot-Marie-Tooth disease Dilated cardiomyopathy 1S |
Variation | info |
Gene | LMNA |
CLNDBN | not specified Peripheral neuropathy Charcot-Marie-Tooth disease, type 2 Dilated cardiomyopathy 1S |
Reversed | 0 |
HGVS | NC_000001.10:g.156107470G>A |
CLNSRC | |
CLNACC | RCV000150955.3, RCV000449630.1, RCV000468904.1, RCV000491650.1, |