rs142000963
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs142000963(C;T) |
Make rs142000963(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 156138719 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs142000963 |
dbSNP (classic) | rs142000963 |
ClinGen | rs142000963 |
ebi | rs142000963 |
HLI | rs142000963 |
Exac | rs142000963 |
Gnomad | rs142000963 |
Varsome | rs142000963 |
LitVar | rs142000963 |
Map | rs142000963 |
PheGenI | rs142000963 |
Biobank | rs142000963 |
1000 genomes | rs142000963 |
hgdp | rs142000963 |
ensembl | rs142000963 |
geneview | rs142000963 |
scholar | rs142000963 |
rs142000963 | |
pharmgkb | rs142000963 |
gwascentral | rs142000963 |
openSNP | rs142000963 |
23andMe | rs142000963 |
SNPshot | rs142000963 |
SNPdbe | rs142000963 |
MSV3d | rs142000963 |
GWAS Ctlg | rs142000963 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142000963(A;A) rs142000963(T;T) |
Alt | rs142000963(A;A) rs142000963(T;T) |
Reference | Rs142000963(C;C) |
Significance | Other |
Disease | not provided Variant of unknown significance not specified Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Variant of unknown significance not specified Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.156108510C>A; NC_000001.10:g.156108510C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000057373.1, RCV000015626.5, RCV000041340.4, RCV000057374.4, RCV000144868.1, RCV000148602.1, RCV000245284.1, RCV000471403.1, |