rs56673169
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs56673169(C;C) |
Make rs56673169(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156137671 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs56673169 |
dbSNP (classic) | rs56673169 |
ClinGen | rs56673169 |
ebi | rs56673169 |
HLI | rs56673169 |
Exac | rs56673169 |
Gnomad | rs56673169 |
Varsome | rs56673169 |
LitVar | rs56673169 |
Map | rs56673169 |
PheGenI | rs56673169 |
Biobank | rs56673169 |
1000 genomes | rs56673169 |
hgdp | rs56673169 |
ensembl | rs56673169 |
geneview | rs56673169 |
scholar | rs56673169 |
rs56673169 | |
pharmgkb | rs56673169 |
gwascentral | rs56673169 |
openSNP | rs56673169 |
23andMe | rs56673169 |
SNPshot | rs56673169 |
SNPdbe | rs56673169 |
MSV3d | rs56673169 |
GWAS Ctlg | rs56673169 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56673169(C;C) |
Alt | rs56673169(C;C) |
Reference | Rs56673169(G;G) |
Significance | Pathogenic |
Disease | Mandibuloacral dysostosis not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Mandibuloacral dysostosis not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156107462G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015603.26, RCV000057346.1, |