rs864321621
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs864321621(A;C) |
Make rs864321621(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 70127695 |
Gene | RTTN |
is a | snp |
is | mentioned by |
dbSNP | rs864321621 |
dbSNP (classic) | rs864321621 |
ClinGen | rs864321621 |
ebi | rs864321621 |
HLI | rs864321621 |
Exac | rs864321621 |
Gnomad | rs864321621 |
Varsome | rs864321621 |
LitVar | rs864321621 |
Map | rs864321621 |
PheGenI | rs864321621 |
Biobank | rs864321621 |
1000 genomes | rs864321621 |
hgdp | rs864321621 |
ensembl | rs864321621 |
geneview | rs864321621 |
scholar | rs864321621 |
rs864321621 | |
pharmgkb | rs864321621 |
gwascentral | rs864321621 |
openSNP | rs864321621 |
23andMe | rs864321621 |
SNPshot | rs864321621 |
SNPdbe | rs864321621 |
MSV3d | rs864321621 |
GWAS Ctlg | rs864321621 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321621(C;C) |
Alt | rs864321621(C;C) |
Reference | Rs864321621(A;A) |
Significance | Pathogenic |
Disease | Congenital microcephaly Microcephaly |
Variation | info |
Gene | RTTN |
CLNDBN | Congenital microcephaly Microcephaly, short stature, and polymicrogyria with or without seizures |
Reversed | 1 |
HGVS | NC_000018.9:g.67794931T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203567.1, RCV000210335.1, |