rs797046109
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797046109(-;-) |
Make rs797046109(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 36102960 |
Gene | WDR62 |
is a | snp |
is | mentioned by |
dbSNP | rs797046109 |
dbSNP (classic) | rs797046109 |
ClinGen | rs797046109 |
ebi | rs797046109 |
HLI | rs797046109 |
Exac | rs797046109 |
Gnomad | rs797046109 |
Varsome | rs797046109 |
LitVar | rs797046109 |
Map | rs797046109 |
PheGenI | rs797046109 |
Biobank | rs797046109 |
1000 genomes | rs797046109 |
hgdp | rs797046109 |
ensembl | rs797046109 |
geneview | rs797046109 |
scholar | rs797046109 |
rs797046109 | |
pharmgkb | rs797046109 |
gwascentral | rs797046109 |
openSNP | rs797046109 |
23andMe | rs797046109 |
SNPshot | rs797046109 |
SNPdbe | rs797046109 |
MSV3d | rs797046109 |
GWAS Ctlg | rs797046109 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046109(-;-) |
Alt | rs797046109(-;-) |
Reference | Rs797046109(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary autosomal recessive microcephaly 2 |
Variation | info |
Gene | WDR62 |
CLNDBN | Primary autosomal recessive microcephaly 2 |
Reversed | 0 |
HGVS | NC_000019.9:g.36593862delC |
CLNSRC | |
CLNACC | RCV000194814.1, |