rs786205064
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACCTGGTGG;ACCTGGTGG) | 0 | common in clinvar |
Make rs786205064(-;-) |
Make rs786205064(-;ACCTGGTGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 2718755 |
Gene | KCNV2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205064 |
dbSNP (classic) | rs786205064 |
ClinGen | rs786205064 |
ebi | rs786205064 |
HLI | rs786205064 |
Exac | rs786205064 |
Gnomad | rs786205064 |
Varsome | rs786205064 |
LitVar | rs786205064 |
Map | rs786205064 |
PheGenI | rs786205064 |
Biobank | rs786205064 |
1000 genomes | rs786205064 |
hgdp | rs786205064 |
ensembl | rs786205064 |
geneview | rs786205064 |
scholar | rs786205064 |
rs786205064 | |
pharmgkb | rs786205064 |
gwascentral | rs786205064 |
openSNP | rs786205064 |
23andMe | rs786205064 |
SNPshot | rs786205064 |
SNPdbe | rs786205064 |
MSV3d | rs786205064 |
GWAS Ctlg | rs786205064 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205064(-;-) |
Alt | rs786205064(-;-) |
Reference | Rs786205064(ACCTGGTGG;ACCTGGTGG) |
Significance | Pathogenic |
Disease | Retinal cone dystrophy 3B |
Variation | info |
Gene | KCNV2 |
CLNDBN | Retinal cone dystrophy 3B |
Reversed | 0 |
HGVS | NC_000009.11:g.2718755_2718763delACCTGGTGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003149.3, |