rs104894113
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894113(G;T) |
Make rs104894113(T;T) |
Reference | GRCh37 37.1/132 |
Chromosome | 9 |
Position | 2718166 |
Gene | KCNV2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894113 |
dbSNP (classic) | rs104894113 |
ClinGen | rs104894113 |
ebi | rs104894113 |
HLI | rs104894113 |
Exac | rs104894113 |
Gnomad | rs104894113 |
Varsome | rs104894113 |
LitVar | rs104894113 |
Map | rs104894113 |
PheGenI | rs104894113 |
Biobank | rs104894113 |
1000 genomes | rs104894113 |
hgdp | rs104894113 |
ensembl | rs104894113 |
geneview | rs104894113 |
scholar | rs104894113 |
rs104894113 | |
pharmgkb | rs104894113 |
gwascentral | rs104894113 |
openSNP | rs104894113 |
23andMe | rs104894113 |
SNPshot | rs104894113 |
SNPdbe | rs104894113 |
MSV3d | rs104894113 |
GWAS Ctlg | rs104894113 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894113(A;A) rs104894113(T;T) |
Alt | rs104894113(A;A) rs104894113(T;T) |
Reference | Rs104894113(G;G) |
Significance | Pathogenic |
Disease | Retinal cone dystrophy 3B |
Variation | info |
Gene | KCNV2 |
CLNDBN | Retinal cone dystrophy 3B |
Reversed | 0 |
HGVS | NC_000009.11:g.2718166G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003146.2, |