rs869320710
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869320710(C;C) |
Make rs869320710(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 42178398 |
Gene | GUCA1A |
is a | snp |
is | mentioned by |
dbSNP | rs869320710 |
dbSNP (classic) | rs869320710 |
ClinGen | rs869320710 |
ebi | rs869320710 |
HLI | rs869320710 |
Exac | rs869320710 |
Gnomad | rs869320710 |
Varsome | rs869320710 |
LitVar | rs869320710 |
Map | rs869320710 |
PheGenI | rs869320710 |
Biobank | rs869320710 |
1000 genomes | rs869320710 |
hgdp | rs869320710 |
ensembl | rs869320710 |
geneview | rs869320710 |
scholar | rs869320710 |
rs869320710 | |
pharmgkb | rs869320710 |
gwascentral | rs869320710 |
openSNP | rs869320710 |
23andMe | rs869320710 |
SNPshot | rs869320710 |
SNPdbe | rs869320710 |
MSV3d | rs869320710 |
GWAS Ctlg | rs869320710 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320710(C;C) |
Alt | rs869320710(C;C) |
Reference | Rs869320710(T;T) |
Significance | Pathogenic |
Disease | Cone dystrophy 3 |
Variation | info |
Gene | GUCA1A |
CLNDBN | Cone dystrophy 3 |
Reversed | 0 |
HGVS | NC_000006.11:g.42146136T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210873.1, |