rs730880014
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880014(C;T) |
Make rs730880014(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 20 |
Position | 40688690 |
Gene | MAFB |
is a | snp |
is | mentioned by |
dbSNP | rs730880014 |
dbSNP (classic) | rs730880014 |
ClinGen | rs730880014 |
ebi | rs730880014 |
HLI | rs730880014 |
Exac | rs730880014 |
Gnomad | rs730880014 |
Varsome | rs730880014 |
LitVar | rs730880014 |
Map | rs730880014 |
PheGenI | rs730880014 |
Biobank | rs730880014 |
1000 genomes | rs730880014 |
hgdp | rs730880014 |
ensembl | rs730880014 |
geneview | rs730880014 |
scholar | rs730880014 |
rs730880014 | |
pharmgkb | rs730880014 |
gwascentral | rs730880014 |
openSNP | rs730880014 |
23andMe | rs730880014 |
SNPshot | rs730880014 |
SNPdbe | rs730880014 |
MSV3d | rs730880014 |
GWAS Ctlg | rs730880014 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880014(T;T) |
Alt | rs730880014(T;T) |
Reference | Rs730880014(C;C) |
Significance | Pathogenic |
Disease | Multicentric osteolysis nephropathy |
Variation | info |
Gene | MAFB |
CLNDBN | Multicentric osteolysis nephropathy |
Reversed | 1 |
HGVS | NC_000020.10:g.39317330G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023752.4, |