rs587783247
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587783247(A;A) |
Make rs587783247(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 197104055 |
Gene | ASPM |
is a | snp |
is | mentioned by |
dbSNP | rs587783247 |
dbSNP (classic) | rs587783247 |
ClinGen | rs587783247 |
ebi | rs587783247 |
HLI | rs587783247 |
Exac | rs587783247 |
Gnomad | rs587783247 |
Varsome | rs587783247 |
LitVar | rs587783247 |
Map | rs587783247 |
PheGenI | rs587783247 |
Biobank | rs587783247 |
1000 genomes | rs587783247 |
hgdp | rs587783247 |
ensembl | rs587783247 |
geneview | rs587783247 |
scholar | rs587783247 |
rs587783247 | |
pharmgkb | rs587783247 |
gwascentral | rs587783247 |
openSNP | rs587783247 |
23andMe | rs587783247 |
SNPshot | rs587783247 |
SNPdbe | rs587783247 |
MSV3d | rs587783247 |
GWAS Ctlg | rs587783247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783247(A;A) |
Alt | rs587783247(A;A) |
Reference | Rs587783247(T;T) |
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.197073185A>T |
CLNSRC | |
CLNACC | RCV000145139.1, |