rs199422184
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199422184(-;-) |
Make rs199422184(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 197093187 |
Gene | ASPM |
is a | snp |
is | mentioned by |
dbSNP | rs199422184 |
dbSNP (classic) | rs199422184 |
ClinGen | rs199422184 |
ebi | rs199422184 |
HLI | rs199422184 |
Exac | rs199422184 |
Gnomad | rs199422184 |
Varsome | rs199422184 |
LitVar | rs199422184 |
Map | rs199422184 |
PheGenI | rs199422184 |
Biobank | rs199422184 |
1000 genomes | rs199422184 |
hgdp | rs199422184 |
ensembl | rs199422184 |
geneview | rs199422184 |
scholar | rs199422184 |
rs199422184 | |
pharmgkb | rs199422184 |
gwascentral | rs199422184 |
openSNP | rs199422184 |
23andMe | rs199422184 |
SNPshot | rs199422184 |
SNPdbe | rs199422184 |
MSV3d | rs199422184 |
GWAS Ctlg | rs199422184 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422184(-;-) |
Alt | rs199422184(-;-) |
Reference | Rs199422184(A;A) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 5 |
Variation | info |
Gene | ASPM |
CLNDBN | Primary autosomal recessive microcephaly 5 |
Reversed | 1 |
HGVS | NC_000001.10:g.197062317delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005247.3, |