rs387907302
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907302(C;T) |
Make rs387907302(T;T) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 2717965 |
Gene | KCNV2 |
is a | snp |
is | mentioned by |
dbSNP | rs387907302 |
dbSNP (classic) | rs387907302 |
ClinGen | rs387907302 |
ebi | rs387907302 |
HLI | rs387907302 |
Exac | rs387907302 |
Gnomad | rs387907302 |
Varsome | rs387907302 |
LitVar | rs387907302 |
Map | rs387907302 |
PheGenI | rs387907302 |
Biobank | rs387907302 |
1000 genomes | rs387907302 |
hgdp | rs387907302 |
ensembl | rs387907302 |
geneview | rs387907302 |
scholar | rs387907302 |
rs387907302 | |
pharmgkb | rs387907302 |
gwascentral | rs387907302 |
openSNP | rs387907302 |
23andMe | rs387907302 |
SNPshot | rs387907302 |
SNPdbe | rs387907302 |
MSV3d | rs387907302 |
GWAS Ctlg | rs387907302 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907302(T;T) |
Alt | rs387907302(T;T) |
Reference | Rs387907302(C;C) |
Significance | Pathogenic |
Disease | Retinal cone dystrophy 3B |
Variation | info |
Gene | KCNV2 |
CLNDBN | Retinal cone dystrophy 3B |
Reversed | 0 |
HGVS | NC_000009.11:g.2717965C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030811.2, |