rs387906340
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906340(CT;CT) |
Make rs387906340(CT;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 47576523 |
Gene | CD2AP |
is a | snp |
is | mentioned by |
dbSNP | rs387906340 |
dbSNP (classic) | rs387906340 |
ClinGen | rs387906340 |
ebi | rs387906340 |
HLI | rs387906340 |
Exac | rs387906340 |
Gnomad | rs387906340 |
Varsome | rs387906340 |
LitVar | rs387906340 |
Map | rs387906340 |
PheGenI | rs387906340 |
Biobank | rs387906340 |
1000 genomes | rs387906340 |
hgdp | rs387906340 |
ensembl | rs387906340 |
geneview | rs387906340 |
scholar | rs387906340 |
rs387906340 | |
pharmgkb | rs387906340 |
gwascentral | rs387906340 |
openSNP | rs387906340 |
23andMe | rs387906340 |
SNPshot | rs387906340 |
SNPdbe | rs387906340 |
MSV3d | rs387906340 |
GWAS Ctlg | rs387906340 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906340(CT;CT) |
Alt | rs387906340(CT;CT) |
Reference | Rs387906340(G;G) |
Significance | Pathogenic |
Disease | Focal segmental glomerulosclerosis 3 |
Variation | info |
Gene | CD2AP |
CLNDBN | Focal segmental glomerulosclerosis 3 |
Reversed | 0 |
HGVS | NC_000006.11:g.47544259_47544260delGCinsCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006057.2, |