rs201583907
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201583907(A;A) |
Make rs201583907(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 156137191 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs201583907 |
dbSNP (classic) | rs201583907 |
ClinGen | rs201583907 |
ebi | rs201583907 |
HLI | rs201583907 |
Exac | rs201583907 |
Gnomad | rs201583907 |
Varsome | rs201583907 |
LitVar | rs201583907 |
Map | rs201583907 |
PheGenI | rs201583907 |
Biobank | rs201583907 |
1000 genomes | rs201583907 |
hgdp | rs201583907 |
ensembl | rs201583907 |
geneview | rs201583907 |
scholar | rs201583907 |
rs201583907 | |
pharmgkb | rs201583907 |
gwascentral | rs201583907 |
openSNP | rs201583907 |
23andMe | rs201583907 |
SNPshot | rs201583907 |
SNPdbe | rs201583907 |
MSV3d | rs201583907 |
GWAS Ctlg | rs201583907 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201583907(A;A) rs201583907(C;C) |
Alt | rs201583907(A;A) rs201583907(C;C) |
Reference | Rs201583907(G;G) |
Significance | Pathogenic |
Disease | not specified not provided Cardiovascular phenotype Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | not specified not provided Cardiovascular phenotype Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.156106982G>A; NC_000001.10:g.156106982G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000041324.3, RCV000057323.4, RCV000245950.1, RCV000474372.1, RCV000182372.1, |