rs121434393
From SNPedia
Focal segmental glomerulosclerosis 2 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 3.5 | Focal segmental glomerulosclerosis 2 |
Make rs121434393(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 101453674 |
Gene | TRPC6 |
is a | snp |
is | mentioned by |
dbSNP | rs121434393 |
dbSNP (classic) | rs121434393 |
ClinGen | rs121434393 |
ebi | rs121434393 |
HLI | rs121434393 |
Exac | rs121434393 |
Gnomad | rs121434393 |
Varsome | rs121434393 |
LitVar | rs121434393 |
Map | rs121434393 |
PheGenI | rs121434393 |
Biobank | rs121434393 |
1000 genomes | rs121434393 |
hgdp | rs121434393 |
ensembl | rs121434393 |
geneview | rs121434393 |
scholar | rs121434393 |
rs121434393 | |
pharmgkb | rs121434393 |
gwascentral | rs121434393 |
openSNP | rs121434393 |
23andMe | rs121434393 |
SNPshot | rs121434393 |
SNPdbe | rs121434393 |
MSV3d | rs121434393 |
GWAS Ctlg | rs121434393 |
Max Magnitude | 3.5 |
Focal segmental glomerulosclerosis 2
Called i5005220 by 23andMe
ClinVar | |
---|---|
Risk | rs121434393(T;T) |
Alt | rs121434393(T;T) |
Reference | Rs121434393(A;A) |
Significance | Pathogenic |
Disease | Focal segmental glomerulosclerosis 2 |
Variation | info |
Gene | TRPC6 |
CLNDBN | Focal segmental glomerulosclerosis 2 |
Reversed | 1 |
HGVS | NC_000011.9:g.101324405T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006529.2, |