rs28928902
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28928902(C;T) |
Make rs28928902(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156136951 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs28928902 |
dbSNP (classic) | rs28928902 |
ClinGen | rs28928902 |
ebi | rs28928902 |
HLI | rs28928902 |
Exac | rs28928902 |
Gnomad | rs28928902 |
Varsome | rs28928902 |
LitVar | rs28928902 |
Map | rs28928902 |
PheGenI | rs28928902 |
Biobank | rs28928902 |
1000 genomes | rs28928902 |
hgdp | rs28928902 |
ensembl | rs28928902 |
geneview | rs28928902 |
scholar | rs28928902 |
rs28928902 | |
pharmgkb | rs28928902 |
gwascentral | rs28928902 |
openSNP | rs28928902 |
23andMe | rs28928902 |
SNPshot | rs28928902 |
SNPdbe | rs28928902 |
MSV3d | rs28928902 |
GWAS Ctlg | rs28928902 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28928902(G;G) rs28928902(T;T) |
Alt | rs28928902(G;G) rs28928902(T;T) |
Reference | Rs28928902(C;C) |
Significance | Pathogenic |
Disease | not provided Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Mandibuloacral dysplasia with type A lipodystrophy, atypical Charcot-Marie-Tooth disease |
Reversed | 0 |
HGVS | NC_000001.10:g.156106742C>G; NC_000001.10:g.156106742C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000057292.1, RCV000015597.26, RCV000057293.1, RCV000192239.1, |