rs886037880
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs886037880(A;A) |
Make rs886037880(A;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 4 |
Position | 16009093 |
Gene | PROM1 |
is a | snp |
is | mentioned by |
dbSNP | rs886037880 |
dbSNP (classic) | rs886037880 |
ClinGen | rs886037880 |
ebi | rs886037880 |
HLI | rs886037880 |
Exac | rs886037880 |
Gnomad | rs886037880 |
Varsome | rs886037880 |
LitVar | rs886037880 |
Map | rs886037880 |
PheGenI | rs886037880 |
Biobank | rs886037880 |
1000 genomes | rs886037880 |
hgdp | rs886037880 |
ensembl | rs886037880 |
geneview | rs886037880 |
scholar | rs886037880 |
rs886037880 | |
pharmgkb | rs886037880 |
gwascentral | rs886037880 |
openSNP | rs886037880 |
23andMe | rs886037880 |
SNPshot | rs886037880 |
SNPdbe | rs886037880 |
MSV3d | rs886037880 |
GWAS Ctlg | rs886037880 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037880(A;A) |
Alt | rs886037880(A;A) |
Reference | Rs886037880(T;T) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 12 |
Variation | info |
Gene | PROM1 |
CLNDBN | Cone-rod dystrophy 12 |
Reversed | 1 |
HGVS | NC_000004.11:g.16010716A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000240342.1, |