rs144938364
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs144938364(A;A) |
Make rs144938364(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 24905576 |
Gene | CENPJ |
is a | snp |
is | mentioned by |
dbSNP | rs144938364 |
dbSNP (classic) | rs144938364 |
ClinGen | rs144938364 |
ebi | rs144938364 |
HLI | rs144938364 |
Exac | rs144938364 |
Gnomad | rs144938364 |
Varsome | rs144938364 |
LitVar | rs144938364 |
Map | rs144938364 |
PheGenI | rs144938364 |
Biobank | rs144938364 |
1000 genomes | rs144938364 |
hgdp | rs144938364 |
ensembl | rs144938364 |
geneview | rs144938364 |
scholar | rs144938364 |
rs144938364 | |
pharmgkb | rs144938364 |
gwascentral | rs144938364 |
openSNP | rs144938364 |
23andMe | rs144938364 |
SNPshot | rs144938364 |
SNPdbe | rs144938364 |
MSV3d | rs144938364 |
GWAS Ctlg | rs144938364 |
GMAF | 0.002755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144938364(A;A) |
Alt | rs144938364(A;A) |
Reference | Rs144938364(G;G) |
Significance | Other |
Disease | Primary autosomal recessive microcephaly 6 |
Variation | info |
Gene | CENPJ |
CLNDBN | Primary autosomal recessive microcephaly 6 |
Reversed | 0 |
HGVS | NC_000013.10:g.25479714G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023763.5, |