rs121912602
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912602(C;T) |
Make rs121912602(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 94254256 |
Gene | PLCE1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912602 |
dbSNP (classic) | rs121912602 |
ClinGen | rs121912602 |
ebi | rs121912602 |
HLI | rs121912602 |
Exac | rs121912602 |
Gnomad | rs121912602 |
Varsome | rs121912602 |
LitVar | rs121912602 |
Map | rs121912602 |
PheGenI | rs121912602 |
Biobank | rs121912602 |
1000 genomes | rs121912602 |
hgdp | rs121912602 |
ensembl | rs121912602 |
geneview | rs121912602 |
scholar | rs121912602 |
rs121912602 | |
pharmgkb | rs121912602 |
gwascentral | rs121912602 |
openSNP | rs121912602 |
23andMe | rs121912602 |
SNPshot | rs121912602 |
SNPdbe | rs121912602 |
MSV3d | rs121912602 |
GWAS Ctlg | rs121912602 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912602(G;G) rs121912602(T;T) |
Alt | rs121912602(G;G) rs121912602(T;T) |
Reference | Rs121912602(C;C) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | PLCE1 |
CLNDBN | Nephrotic syndrome, type 3 |
Reversed | 0 |
HGVS | NC_000010.10:g.96014013C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002437.3, |