rs145489194
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs145489194(C;C) |
Make rs145489194(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 197133380 |
Gene | ASPM |
is a | snp |
is | mentioned by |
dbSNP | rs145489194 |
dbSNP (classic) | rs145489194 |
ClinGen | rs145489194 |
ebi | rs145489194 |
HLI | rs145489194 |
Exac | rs145489194 |
Gnomad | rs145489194 |
Varsome | rs145489194 |
LitVar | rs145489194 |
Map | rs145489194 |
PheGenI | rs145489194 |
Biobank | rs145489194 |
1000 genomes | rs145489194 |
hgdp | rs145489194 |
ensembl | rs145489194 |
geneview | rs145489194 |
scholar | rs145489194 |
rs145489194 | |
pharmgkb | rs145489194 |
gwascentral | rs145489194 |
openSNP | rs145489194 |
23andMe | rs145489194 |
SNPshot | rs145489194 |
SNPdbe | rs145489194 |
MSV3d | rs145489194 |
GWAS Ctlg | rs145489194 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145489194(A;A) rs145489194(C;C) |
Alt | rs145489194(A;A) rs145489194(C;C) |
Reference | Rs145489194(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.197102510G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005253.4, |