rs137853907
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853907(A;A) |
Make rs137853907(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 16000517 |
Gene | PROM1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853907 |
dbSNP (classic) | rs137853907 |
ClinGen | rs137853907 |
ebi | rs137853907 |
HLI | rs137853907 |
Exac | rs137853907 |
Gnomad | rs137853907 |
Varsome | rs137853907 |
LitVar | rs137853907 |
Map | rs137853907 |
PheGenI | rs137853907 |
Biobank | rs137853907 |
1000 genomes | rs137853907 |
hgdp | rs137853907 |
ensembl | rs137853907 |
geneview | rs137853907 |
scholar | rs137853907 |
rs137853907 | |
pharmgkb | rs137853907 |
gwascentral | rs137853907 |
openSNP | rs137853907 |
23andMe | rs137853907 |
SNPshot | rs137853907 |
SNPdbe | rs137853907 |
MSV3d | rs137853907 |
GWAS Ctlg | rs137853907 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853907(A;A) |
Alt | rs137853907(A;A) |
Reference | Rs137853907(C;C) |
Significance | Pathogenic |
Disease | not provided Cone-rod dystrophy 12 Retinitis pigmentosa 41 |
Variation | info |
Gene | PROM1 |
CLNDBN | not provided Cone-rod dystrophy 12 Retinitis pigmentosa 41 |
Reversed | 1 |
HGVS | NC_000004.11:g.16002140G>T |
CLNSRC | |
CLNACC | RCV000086959.1, RCV000174557.1, RCV000174558.1, |