rs121434394
From SNPedia
Focal segmental glomerulosclerosis 2 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3.5 | Focal segmental glomerulosclerosis 2 |
Make rs121434394(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 101453068 |
Gene | TRPC6 |
is a | snp |
is | mentioned by |
dbSNP | rs121434394 |
dbSNP (classic) | rs121434394 |
ClinGen | rs121434394 |
ebi | rs121434394 |
HLI | rs121434394 |
Exac | rs121434394 |
Gnomad | rs121434394 |
Varsome | rs121434394 |
LitVar | rs121434394 |
Map | rs121434394 |
PheGenI | rs121434394 |
Biobank | rs121434394 |
1000 genomes | rs121434394 |
hgdp | rs121434394 |
ensembl | rs121434394 |
geneview | rs121434394 |
scholar | rs121434394 |
rs121434394 | |
pharmgkb | rs121434394 |
gwascentral | rs121434394 |
openSNP | rs121434394 |
23andMe | rs121434394 |
SNPshot | rs121434394 |
SNPdbe | rs121434394 |
MSV3d | rs121434394 |
GWAS Ctlg | rs121434394 |
Max Magnitude | 3.5 |
Focal segmental glomerulosclerosis 2
Called i6019083 and i5005221 by 23andMe
ClinVar | |
---|---|
Risk | rs121434394(T;T) |
Alt | rs121434394(T;T) |
Reference | Rs121434394(C;C) |
Significance | Pathogenic |
Disease | Focal segmental glomerulosclerosis 2 |
Variation | info |
Gene | TRPC6 |
CLNDBN | Focal segmental glomerulosclerosis 2 |
Reversed | 1 |
HGVS | NC_000011.9:g.101323799G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006530.2, |