rs118203894
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs118203894(A;G) |
Make rs118203894(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 5843 |
is a | snp |
is | mentioned by |
dbSNP | rs118203894 |
dbSNP (classic) | rs118203894 |
ClinGen | rs118203894 |
ebi | rs118203894 |
HLI | rs118203894 |
Exac | rs118203894 |
Gnomad | rs118203894 |
Varsome | rs118203894 |
LitVar | rs118203894 |
Map | rs118203894 |
PheGenI | rs118203894 |
Biobank | rs118203894 |
1000 genomes | rs118203894 |
hgdp | rs118203894 |
ensembl | rs118203894 |
geneview | rs118203894 |
scholar | rs118203894 |
rs118203894 | |
pharmgkb | rs118203894 |
gwascentral | rs118203894 |
openSNP | rs118203894 |
23andMe | rs118203894 |
SNPshot | rs118203894 |
SNPdbe | rs118203894 |
MSV3d | rs118203894 |
GWAS Ctlg | rs118203894 |
GMAF | 0.0009355 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203894(G;G) |
Alt | rs118203894(G;G) |
Reference | Rs118203894(A;A) |
Significance | Pathogenic |
Disease | Focal segmental glomerulosclerosis and dilated cardiomyopathy |
Variation | info |
Gene | |
CLNDBN | Focal segmental glomerulosclerosis and dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_012920.1:m.5843A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010162.2, |