rs267606717
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267606717(A;C) |
Make rs267606717(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48793359 |
Gene | CEP152 |
is a | snp |
is | mentioned by |
dbSNP | rs267606717 |
dbSNP (classic) | rs267606717 |
ClinGen | rs267606717 |
ebi | rs267606717 |
HLI | rs267606717 |
Exac | rs267606717 |
Gnomad | rs267606717 |
Varsome | rs267606717 |
LitVar | rs267606717 |
Map | rs267606717 |
PheGenI | rs267606717 |
Biobank | rs267606717 |
1000 genomes | rs267606717 |
hgdp | rs267606717 |
ensembl | rs267606717 |
geneview | rs267606717 |
scholar | rs267606717 |
rs267606717 | |
pharmgkb | rs267606717 |
gwascentral | rs267606717 |
openSNP | rs267606717 |
23andMe | rs267606717 |
SNPshot | rs267606717 |
SNPdbe | rs267606717 |
MSV3d | rs267606717 |
GWAS Ctlg | rs267606717 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606717(C;C) |
Alt | rs267606717(C;C) |
Reference | Rs267606717(A;A) |
Significance | Other |
Disease | Primary autosomal recessive microcephaly 9 not provided |
Variation | info |
Gene | CEP152 |
CLNDBN | Primary autosomal recessive microcephaly 9 not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.49085556T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000072.5, RCV000413650.1, |