rs587777280
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGGTG;AGGTG) | 0 | common in clinvar |
(AGGTGC;AGGTGC) | 0 | common in clinvar |
(CACCT;CACCT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587777280(-;-) |
Make rs587777280(-;CACCT) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 15607815 |
Gene | ITGA8 |
is a | snp |
is | mentioned by |
dbSNP | rs587777280 |
dbSNP (classic) | rs587777280 |
ClinGen | rs587777280 |
ebi | rs587777280 |
HLI | rs587777280 |
Exac | rs587777280 |
Gnomad | rs587777280 |
Varsome | rs587777280 |
LitVar | rs587777280 |
Map | rs587777280 |
PheGenI | rs587777280 |
Biobank | rs587777280 |
1000 genomes | rs587777280 |
hgdp | rs587777280 |
ensembl | rs587777280 |
geneview | rs587777280 |
scholar | rs587777280 |
rs587777280 | |
pharmgkb | rs587777280 |
gwascentral | rs587777280 |
openSNP | rs587777280 |
23andMe | rs587777280 |
SNPshot | rs587777280 |
SNPdbe | rs587777280 |
MSV3d | rs587777280 |
GWAS Ctlg | rs587777280 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777280(CACCT;CACCT) rs587777280(-;-) |
Alt | Rs587777280(CACCT;CACCT) rs587777280(-;-) |
Reference | Rs587777280(AGGTG;AGGTG) |
Significance | Pathogenic |
Disease | Renal adysplasia |
Variation | info |
Gene | ITGA8 |
CLNDBN | Renal adysplasia |
Reversed | 1 |
HGVS | NC_000010.10:g.15649814_15649818delCACCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114394.4, |