rs2230515
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs2230515(A;G) |
Make rs2230515(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 111997424 |
Gene | MERTK |
is a | snp |
is | mentioned by |
dbSNP | rs2230515 |
dbSNP (classic) | rs2230515 |
ClinGen | rs2230515 |
ebi | rs2230515 |
HLI | rs2230515 |
Exac | rs2230515 |
Gnomad | rs2230515 |
Varsome | rs2230515 |
LitVar | rs2230515 |
Map | rs2230515 |
PheGenI | rs2230515 |
Biobank | rs2230515 |
1000 genomes | rs2230515 |
hgdp | rs2230515 |
ensembl | rs2230515 |
geneview | rs2230515 |
scholar | rs2230515 |
rs2230515 | |
pharmgkb | rs2230515 |
gwascentral | rs2230515 |
openSNP | rs2230515 |
23andMe | rs2230515 |
SNPshot | rs2230515 |
SNPdbe | rs2230515 |
MSV3d | rs2230515 |
GWAS Ctlg | rs2230515 |
Merged from | Rs3811635 |
GMAF | 0.4816 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2230515(G;G) |
Alt | rs2230515(G;G) |
Reference | Rs2230515(A;A) |
Significance | Probable-non-pathogenic |
Disease | Retinitis Pigmentosa |
Variation | info |
Gene | MERTK |
CLNDBN | Retinitis Pigmentosa, Recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.112755001A>G |
CLNSRC | |
CLNACC | RCV000354460.1, |