rs121908416
From SNPedia
Focal segmental glomerulosclerosis |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3.5 | Focal segmental glomerulosclerosis 1 (possible) |
Make rs121908416(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38710299 |
Gene | ACTN4, LOC107985291 |
is a | snp |
is | mentioned by |
dbSNP | rs121908416 |
dbSNP (classic) | rs121908416 |
ClinGen | rs121908416 |
ebi | rs121908416 |
HLI | rs121908416 |
Exac | rs121908416 |
Gnomad | rs121908416 |
Varsome | rs121908416 |
LitVar | rs121908416 |
Map | rs121908416 |
PheGenI | rs121908416 |
Biobank | rs121908416 |
1000 genomes | rs121908416 |
hgdp | rs121908416 |
ensembl | rs121908416 |
geneview | rs121908416 |
scholar | rs121908416 |
rs121908416 | |
pharmgkb | rs121908416 |
gwascentral | rs121908416 |
openSNP | rs121908416 |
23andMe | rs121908416 |
SNPshot | rs121908416 |
SNPdbe | rs121908416 |
MSV3d | rs121908416 |
GWAS Ctlg | rs121908416 |
Merged from | Rs28939375 |
Max Magnitude | 3.5 |
Focal segmental glomerulosclerosis
Called i5900586 by 23andMe
ClinVar | |
---|---|
Risk | rs121908416(T;T) |
Alt | rs121908416(T;T) |
Reference | Rs121908416(C;C) |
Significance | Pathogenic |
Disease | Focal segmental glomerulosclerosis 1 |
Variation | info |
Gene | ACTN4 |
CLNDBN | Focal segmental glomerulosclerosis 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.39200939C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005754.4, |