rs606231283
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs606231283(A;C) |
Make rs606231283(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48261205 |
Gene | ITM2B |
is a | snp |
is | mentioned by |
dbSNP | rs606231283 |
dbSNP (classic) | rs606231283 |
ClinGen | rs606231283 |
ebi | rs606231283 |
HLI | rs606231283 |
Exac | rs606231283 |
Gnomad | rs606231283 |
Varsome | rs606231283 |
LitVar | rs606231283 |
Map | rs606231283 |
PheGenI | rs606231283 |
Biobank | rs606231283 |
1000 genomes | rs606231283 |
hgdp | rs606231283 |
ensembl | rs606231283 |
geneview | rs606231283 |
scholar | rs606231283 |
rs606231283 | |
pharmgkb | rs606231283 |
gwascentral | rs606231283 |
openSNP | rs606231283 |
23andMe | rs606231283 |
SNPshot | rs606231283 |
SNPdbe | rs606231283 |
MSV3d | rs606231283 |
GWAS Ctlg | rs606231283 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231283(C;C) |
Alt | rs606231283(C;C) |
Reference | Rs606231283(A;A) |
Significance | Pathogenic |
Disease | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
Variation | info |
Gene | ITM2B |
CLNDBN | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
Reversed | 0 |
HGVS | NC_000013.10:g.48835341A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144939.3, |