rs587783421
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783421(-;-) |
Make rs587783421(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 48760150 |
Gene | CEP152 |
is a | snp |
is | mentioned by |
dbSNP | rs587783421 |
dbSNP (classic) | rs587783421 |
ClinGen | rs587783421 |
ebi | rs587783421 |
HLI | rs587783421 |
Exac | rs587783421 |
Gnomad | rs587783421 |
Varsome | rs587783421 |
LitVar | rs587783421 |
Map | rs587783421 |
PheGenI | rs587783421 |
Biobank | rs587783421 |
1000 genomes | rs587783421 |
hgdp | rs587783421 |
ensembl | rs587783421 |
geneview | rs587783421 |
scholar | rs587783421 |
rs587783421 | |
pharmgkb | rs587783421 |
gwascentral | rs587783421 |
openSNP | rs587783421 |
23andMe | rs587783421 |
SNPshot | rs587783421 |
SNPdbe | rs587783421 |
MSV3d | rs587783421 |
GWAS Ctlg | rs587783421 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783421(-;-) |
Alt | rs587783421(-;-) |
Reference | Rs587783421(C;C) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 9 |
Variation | info |
Gene | CEP152 |
CLNDBN | Primary autosomal recessive microcephaly 9 |
Reversed | 1 |
HGVS | NC_000015.9:g.49052347delG |
CLNSRC | |
CLNACC | RCV000145614.1, |