rs863223323
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs863223323(-;-) |
Make rs863223323(-;AG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 36100754 |
Gene | WDR62 |
is a | snp |
is | mentioned by |
dbSNP | rs863223323 |
dbSNP (classic) | rs863223323 |
ClinGen | rs863223323 |
ebi | rs863223323 |
HLI | rs863223323 |
Exac | rs863223323 |
Gnomad | rs863223323 |
Varsome | rs863223323 |
LitVar | rs863223323 |
Map | rs863223323 |
PheGenI | rs863223323 |
Biobank | rs863223323 |
1000 genomes | rs863223323 |
hgdp | rs863223323 |
ensembl | rs863223323 |
geneview | rs863223323 |
scholar | rs863223323 |
rs863223323 | |
pharmgkb | rs863223323 |
gwascentral | rs863223323 |
openSNP | rs863223323 |
23andMe | rs863223323 |
SNPshot | rs863223323 |
SNPdbe | rs863223323 |
MSV3d | rs863223323 |
GWAS Ctlg | rs863223323 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223323(-;-) |
Alt | rs863223323(-;-) |
Reference | Rs863223323(AG;AG) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 2 |
Variation | info |
Gene | WDR62 |
CLNDBN | Primary autosomal recessive microcephaly 2 |
Reversed | 0 |
HGVS | NC_000019.9:g.36591656_36591657delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024036.4, |