rs387907106
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907106(C;T) |
Make rs387907106(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 109467654 |
Gene | MICAL1, ZBTB24 |
is a | snp |
is | mentioned by |
dbSNP | rs387907106 |
dbSNP (classic) | rs387907106 |
ClinGen | rs387907106 |
ebi | rs387907106 |
HLI | rs387907106 |
Exac | rs387907106 |
Gnomad | rs387907106 |
Varsome | rs387907106 |
LitVar | rs387907106 |
Map | rs387907106 |
PheGenI | rs387907106 |
Biobank | rs387907106 |
1000 genomes | rs387907106 |
hgdp | rs387907106 |
ensembl | rs387907106 |
geneview | rs387907106 |
scholar | rs387907106 |
rs387907106 | |
pharmgkb | rs387907106 |
gwascentral | rs387907106 |
openSNP | rs387907106 |
23andMe | rs387907106 |
SNPshot | rs387907106 |
SNPdbe | rs387907106 |
MSV3d | rs387907106 |
GWAS Ctlg | rs387907106 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907106(T;T) |
Alt | rs387907106(T;T) |
Reference | Rs387907106(C;C) |
Significance | Pathogenic |
Disease | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
Variation | info |
Gene | MICAL1 ZBTB24 |
CLNDBN | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
Reversed | 1 |
HGVS | NC_000006.11:g.109788857G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024092.3, |