rs1046974
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1046974(A;A) |
Make rs1046974(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 233346901 |
Gene | SAG |
is a | snp |
is | mentioned by |
dbSNP | rs1046974 |
dbSNP (classic) | rs1046974 |
ClinGen | rs1046974 |
ebi | rs1046974 |
HLI | rs1046974 |
Exac | rs1046974 |
Gnomad | rs1046974 |
Varsome | rs1046974 |
LitVar | rs1046974 |
Map | rs1046974 |
PheGenI | rs1046974 |
Biobank | rs1046974 |
1000 genomes | rs1046974 |
hgdp | rs1046974 |
ensembl | rs1046974 |
geneview | rs1046974 |
scholar | rs1046974 |
rs1046974 | |
pharmgkb | rs1046974 |
gwascentral | rs1046974 |
openSNP | rs1046974 |
23andMe | rs1046974 |
SNPshot | rs1046974 |
SNPdbe | rs1046974 |
MSV3d | rs1046974 |
GWAS Ctlg | rs1046974 |
GMAF | 0.3127 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1046974(A;A) |
Alt | rs1046974(A;A) |
Reference | Rs1046974(G;G) |
Significance | Non-pathogenic |
Disease | not specified Retinitis Pigmentosa Oguchi's disease |
Variation | info |
Gene | SAG |
CLNDBN | not specified Retinitis Pigmentosa, Recessive Oguchi's disease |
Reversed | 0 |
HGVS | NC_000002.11:g.234255547G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000175016.1, RCV000308556.1, RCV000403333.1, |