rs7604639
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs7604639(A;A) |
Make rs7604639(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 111994351 |
Gene | MERTK |
is a | snp |
is | mentioned by |
dbSNP | rs7604639 |
dbSNP (classic) | rs7604639 |
ClinGen | rs7604639 |
ebi | rs7604639 |
HLI | rs7604639 |
Exac | rs7604639 |
Gnomad | rs7604639 |
Varsome | rs7604639 |
LitVar | rs7604639 |
Map | rs7604639 |
PheGenI | rs7604639 |
Biobank | rs7604639 |
1000 genomes | rs7604639 |
hgdp | rs7604639 |
ensembl | rs7604639 |
geneview | rs7604639 |
scholar | rs7604639 |
rs7604639 | |
pharmgkb | rs7604639 |
gwascentral | rs7604639 |
openSNP | rs7604639 |
23andMe | rs7604639 |
SNPshot | rs7604639 |
SNPdbe | rs7604639 |
MSV3d | rs7604639 |
GWAS Ctlg | rs7604639 |
GMAF | 0.4821 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs7604639(A;A) |
Alt | rs7604639(A;A) |
Reference | Rs7604639(G;G) |
Significance | Probable-non-pathogenic |
Disease | Retinitis Pigmentosa |
Variation | info |
Gene | MERTK |
CLNDBN | Retinitis Pigmentosa, Recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.112751928G>A |
CLNSRC | |
CLNACC | RCV000397330.1, |