rs527236083
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs527236083(-;-) |
Make rs527236083(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 111929283 |
Gene | MERTK |
is a | snp |
is | mentioned by |
dbSNP | rs527236083 |
dbSNP (classic) | rs527236083 |
ClinGen | rs527236083 |
ebi | rs527236083 |
HLI | rs527236083 |
Exac | rs527236083 |
Gnomad | rs527236083 |
Varsome | rs527236083 |
LitVar | rs527236083 |
Map | rs527236083 |
PheGenI | rs527236083 |
Biobank | rs527236083 |
1000 genomes | rs527236083 |
hgdp | rs527236083 |
ensembl | rs527236083 |
geneview | rs527236083 |
scholar | rs527236083 |
rs527236083 | |
pharmgkb | rs527236083 |
gwascentral | rs527236083 |
openSNP | rs527236083 |
23andMe | rs527236083 |
SNPshot | rs527236083 |
SNPdbe | rs527236083 |
MSV3d | rs527236083 |
GWAS Ctlg | rs527236083 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236083(-;-) |
Alt | rs527236083(-;-) |
Reference | Rs527236083(A;A) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | MERTK |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000002.11:g.112686860delA |
CLNSRC | ClinVar |
CLNACC | RCV000132664.1, |