rs121434631
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs121434631(C;T) |
Make rs121434631(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 42179248 |
Gene | GUCA1A |
is a | snp |
is | mentioned by |
dbSNP | rs121434631 |
dbSNP (classic) | rs121434631 |
ClinGen | rs121434631 |
ebi | rs121434631 |
HLI | rs121434631 |
Exac | rs121434631 |
Gnomad | rs121434631 |
Varsome | rs121434631 |
LitVar | rs121434631 |
Map | rs121434631 |
PheGenI | rs121434631 |
Biobank | rs121434631 |
1000 genomes | rs121434631 |
hgdp | rs121434631 |
ensembl | rs121434631 |
geneview | rs121434631 |
scholar | rs121434631 |
rs121434631 | |
pharmgkb | rs121434631 |
gwascentral | rs121434631 |
openSNP | rs121434631 |
23andMe | rs121434631 |
SNPshot | rs121434631 |
SNPdbe | rs121434631 |
MSV3d | rs121434631 |
GWAS Ctlg | rs121434631 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434631(G;G) rs121434631(T;T) |
Alt | rs121434631(G;G) rs121434631(T;T) |
Reference | Rs121434631(C;C) |
Significance | Pathogenic |
Disease | Cone dystrophy 3 |
Variation | info |
Gene | GUCA1A |
CLNDBN | Cone dystrophy 3 |
Reversed | 0 |
HGVS | NC_000006.11:g.42146986C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032613.3, |