rs199422183
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs199422183(-;CATT) |
Make rs199422183(CATT;CATT) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 197093227 |
Gene | ASPM |
is a | snp |
is | mentioned by |
dbSNP | rs199422183 |
dbSNP (classic) | rs199422183 |
ClinGen | rs199422183 |
ebi | rs199422183 |
HLI | rs199422183 |
Exac | rs199422183 |
Gnomad | rs199422183 |
Varsome | rs199422183 |
LitVar | rs199422183 |
Map | rs199422183 |
PheGenI | rs199422183 |
Biobank | rs199422183 |
1000 genomes | rs199422183 |
hgdp | rs199422183 |
ensembl | rs199422183 |
geneview | rs199422183 |
scholar | rs199422183 |
rs199422183 | |
pharmgkb | rs199422183 |
gwascentral | rs199422183 |
openSNP | rs199422183 |
23andMe | rs199422183 |
SNPshot | rs199422183 |
SNPdbe | rs199422183 |
MSV3d | rs199422183 |
GWAS Ctlg | rs199422183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422183(CATT;CATT) |
Alt | rs199422183(CATT;CATT) |
Reference | Rs199422183(-;-) |
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.197062357_197062358insAATG |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020810.1, |