rs1060502211
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060502211(G;T) |
Make rs1060502211(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 156135952 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs1060502211 |
dbSNP (classic) | rs1060502211 |
ClinGen | rs1060502211 |
ebi | rs1060502211 |
HLI | rs1060502211 |
Exac | rs1060502211 |
Gnomad | rs1060502211 |
Varsome | rs1060502211 |
LitVar | rs1060502211 |
Map | rs1060502211 |
PheGenI | rs1060502211 |
Biobank | rs1060502211 |
1000 genomes | rs1060502211 |
hgdp | rs1060502211 |
ensembl | rs1060502211 |
geneview | rs1060502211 |
scholar | rs1060502211 |
rs1060502211 | |
pharmgkb | rs1060502211 |
gwascentral | rs1060502211 |
openSNP | rs1060502211 |
23andMe | rs1060502211 |
SNPshot | rs1060502211 |
SNPdbe | rs1060502211 |
MSV3d | rs1060502211 |
GWAS Ctlg | rs1060502211 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502211(T;T) |
Alt | rs1060502211(T;T) |
Reference | Rs1060502211(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.156105743G>T |
CLNSRC | |
CLNACC | RCV000467141.1, |