rs140602858
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140602858(A;A) |
Make rs140602858(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 197121974 |
Gene | ASPM |
is a | snp |
is | mentioned by |
dbSNP | rs140602858 |
dbSNP (classic) | rs140602858 |
ClinGen | rs140602858 |
ebi | rs140602858 |
HLI | rs140602858 |
Exac | rs140602858 |
Gnomad | rs140602858 |
Varsome | rs140602858 |
LitVar | rs140602858 |
Map | rs140602858 |
PheGenI | rs140602858 |
Biobank | rs140602858 |
1000 genomes | rs140602858 |
hgdp | rs140602858 |
ensembl | rs140602858 |
geneview | rs140602858 |
scholar | rs140602858 |
rs140602858 | |
pharmgkb | rs140602858 |
gwascentral | rs140602858 |
openSNP | rs140602858 |
23andMe | rs140602858 |
SNPshot | rs140602858 |
SNPdbe | rs140602858 |
MSV3d | rs140602858 |
GWAS Ctlg | rs140602858 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140602858(A;A) |
Alt | rs140602858(A;A) |
Reference | Rs140602858(G;G) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 5 |
Variation | info |
Gene | ASPM |
CLNDBN | Primary autosomal recessive microcephaly 5 |
Reversed | 0 |
HGVS | NC_000001.10:g.197091104G>A |
CLNSRC | ClinVar GeneReviews University of Chicago |
CLNACC | RCV000020773.2, |