rs1060499757
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs1060499757(-;-) |
Make rs1060499757(-;GA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 197101677 |
Gene | ASPM |
is a | snp |
is | mentioned by |
dbSNP | rs1060499757 |
dbSNP (classic) | rs1060499757 |
ClinGen | rs1060499757 |
ebi | rs1060499757 |
HLI | rs1060499757 |
Exac | rs1060499757 |
Gnomad | rs1060499757 |
Varsome | rs1060499757 |
LitVar | rs1060499757 |
Map | rs1060499757 |
PheGenI | rs1060499757 |
Biobank | rs1060499757 |
1000 genomes | rs1060499757 |
hgdp | rs1060499757 |
ensembl | rs1060499757 |
geneview | rs1060499757 |
scholar | rs1060499757 |
rs1060499757 | |
pharmgkb | rs1060499757 |
gwascentral | rs1060499757 |
openSNP | rs1060499757 |
23andMe | rs1060499757 |
SNPshot | rs1060499757 |
SNPdbe | rs1060499757 |
MSV3d | rs1060499757 |
GWAS Ctlg | rs1060499757 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499757(-;-) |
Alt | rs1060499757(-;-) |
Reference | Rs1060499757(GA;GA) |
Significance | Probable-Pathogenic |
Disease | Microcephaly |
Variation | info |
Gene | ASPM |
CLNDBN | Microcephaly |
Reversed | 1 |
HGVS | NC_000001.10:g.197070807_197070808delTC |
CLNSRC | |
CLNACC | RCV000454355.1, |