rs397704725
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCCAAGAGCCTGCCCTG;GCCAAGAGCCTGCCCTG) | 0 | common in clinvar |
(GGCCAAGAGCCTGCCCT;GGCCAAGAGCCTGCCCT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs397704725(-;-) |
Make rs397704725(-;GCCAAGAGCCTGCCCTG) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 36103667 |
Gene | WDR62 |
is a | snp |
is | mentioned by |
dbSNP | rs397704725 |
dbSNP (classic) | rs397704725 |
ClinGen | rs397704725 |
ebi | rs397704725 |
HLI | rs397704725 |
Exac | rs397704725 |
Gnomad | rs397704725 |
Varsome | rs397704725 |
LitVar | rs397704725 |
Map | rs397704725 |
PheGenI | rs397704725 |
Biobank | rs397704725 |
1000 genomes | rs397704725 |
hgdp | rs397704725 |
ensembl | rs397704725 |
geneview | rs397704725 |
scholar | rs397704725 |
rs397704725 | |
pharmgkb | rs397704725 |
gwascentral | rs397704725 |
openSNP | rs397704725 |
23andMe | rs397704725 |
SNPshot | rs397704725 |
SNPdbe | rs397704725 |
MSV3d | rs397704725 |
GWAS Ctlg | rs397704725 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397704725(-;-) |
Alt | rs397704725(-;-) |
Reference | Rs397704725(GGCCAAGAGCCTGCCCT;GGCCAAGAGCCTGCCCT) |
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.36594569_36594585del17 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000061.4, |