rs56030372
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs56030372(A;A) |
Make rs56030372(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 111401108 |
Gene | DCX |
is a | snp |
is | mentioned by |
dbSNP | rs56030372 |
dbSNP (classic) | rs56030372 |
ClinGen | rs56030372 |
ebi | rs56030372 |
HLI | rs56030372 |
Exac | rs56030372 |
Gnomad | rs56030372 |
Varsome | rs56030372 |
LitVar | rs56030372 |
Map | rs56030372 |
PheGenI | rs56030372 |
Biobank | rs56030372 |
1000 genomes | rs56030372 |
hgdp | rs56030372 |
ensembl | rs56030372 |
geneview | rs56030372 |
scholar | rs56030372 |
rs56030372 | |
pharmgkb | rs56030372 |
gwascentral | rs56030372 |
openSNP | rs56030372 |
23andMe | rs56030372 |
SNPshot | rs56030372 |
SNPdbe | rs56030372 |
MSV3d | rs56030372 |
GWAS Ctlg | rs56030372 |
Merged from | Rs28935172, Rs386576624 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56030372(A;A) |
Alt | rs56030372(A;A) |
Reference | Rs56030372(G;G) |
Significance | Pathogenic |
Disease | Lissencephaly Subcortical laminar heterotopia Heterotopia |
Variation | info |
Gene | DCX |
CLNDBN | Lissencephaly, X-linked Subcortical laminar heterotopia, X-linked Heterotopia |
Reversed | 1 |
HGVS | NC_000023.10:g.110644336C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012373.14, RCV000012374.14, RCV000145869.1, |