rs587784452
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587784452(A;A) |
Make rs587784452(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 47289563 |
Gene | STIL |
is a | snp |
is | mentioned by |
dbSNP | rs587784452 |
dbSNP (classic) | rs587784452 |
ClinGen | rs587784452 |
ebi | rs587784452 |
HLI | rs587784452 |
Exac | rs587784452 |
Gnomad | rs587784452 |
Varsome | rs587784452 |
LitVar | rs587784452 |
Map | rs587784452 |
PheGenI | rs587784452 |
Biobank | rs587784452 |
1000 genomes | rs587784452 |
hgdp | rs587784452 |
ensembl | rs587784452 |
geneview | rs587784452 |
scholar | rs587784452 |
rs587784452 | |
pharmgkb | rs587784452 |
gwascentral | rs587784452 |
openSNP | rs587784452 |
23andMe | rs587784452 |
SNPshot | rs587784452 |
SNPdbe | rs587784452 |
MSV3d | rs587784452 |
GWAS Ctlg | rs587784452 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784452(A;A) |
Alt | rs587784452(A;A) |
Reference | Rs587784452(T;T) |
Significance | Probable-Pathogenic |
Disease | Primary autosomal recessive microcephaly 7 |
Variation | info |
Gene | STIL |
CLNDBN | Primary autosomal recessive microcephaly 7 |
Reversed | 1 |
HGVS | NC_000001.10:g.47755235A>T |
CLNSRC | |
CLNACC | RCV000147700.1, |