rs386576624
From SNPedia
Merged into | rs56030372 |
Orientation | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs386576624(C;T) |
Make rs386576624(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 111401108 |
Gene | DCX |
is a | snp |
is | mentioned by |
dbSNP | rs386576624 |
dbSNP (classic) | rs386576624 |
ClinGen | rs386576624 |
ebi | rs386576624 |
HLI | rs386576624 |
Exac | rs386576624 |
Gnomad | rs386576624 |
Varsome | rs386576624 |
LitVar | rs386576624 |
Map | rs386576624 |
PheGenI | rs386576624 |
Biobank | rs386576624 |
1000 genomes | rs386576624 |
hgdp | rs386576624 |
ensembl | rs386576624 |
geneview | rs386576624 |
scholar | rs386576624 |
rs386576624 | |
pharmgkb | rs386576624 |
gwascentral | rs386576624 |
openSNP | rs386576624 |
23andMe | rs386576624 |
SNPshot | rs386576624 |
SNPdbe | rs386576624 |
MSV3d | rs386576624 |
GWAS Ctlg | rs386576624 |
Status | Merged into rs56030372 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386576624(T;T) |
Alt | rs386576624(T;T) |
Reference | Rs386576624(C;C) |
Significance | Pathogenic |
Disease | Lissencephaly Subcortical laminar heterotopia Heterotopia |
Variation | info |
Gene | DCX |
CLNDBN | Lissencephaly, X-linked Subcortical laminar heterotopia, X-linked Heterotopia |
Reversed | 0 |
HGVS | NC_000023.11:g.111401108C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012373.13, RCV000012374.13, RCV000145869.1, |