rs587776969
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAC;GAC) | 0 | common in clinvar |
(GACA;GACA) | 0 | common in clinvar |
(GTC;GTC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587776969(-;-) |
Make rs587776969(-;GTC) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 81868936 |
Gene | ARHGDIA |
is a | snp |
is | mentioned by |
dbSNP | rs587776969 |
dbSNP (classic) | rs587776969 |
ClinGen | rs587776969 |
ebi | rs587776969 |
HLI | rs587776969 |
Exac | rs587776969 |
Gnomad | rs587776969 |
Varsome | rs587776969 |
LitVar | rs587776969 |
Map | rs587776969 |
PheGenI | rs587776969 |
Biobank | rs587776969 |
1000 genomes | rs587776969 |
hgdp | rs587776969 |
ensembl | rs587776969 |
geneview | rs587776969 |
scholar | rs587776969 |
rs587776969 | |
pharmgkb | rs587776969 |
gwascentral | rs587776969 |
openSNP | rs587776969 |
23andMe | rs587776969 |
SNPshot | rs587776969 |
SNPdbe | rs587776969 |
MSV3d | rs587776969 |
GWAS Ctlg | rs587776969 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776969(GTC;GTC) rs587776969(-;-) |
Alt | Rs587776969(GTC;GTC) rs587776969(-;-) |
Reference | Rs587776969(GAC;GAC) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | ARHGDIA |
CLNDBN | Nephrotic syndrome, type 8 |
Reversed | 1 |
HGVS | NC_000017.10:g.79826812_79826814delGTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043532.3, |