rs879253733
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879253733(A;G) |
Make rs879253733(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 94594702 |
Gene | HELLS |
is a | snp |
is | mentioned by |
dbSNP | rs879253733 |
dbSNP (classic) | rs879253733 |
ClinGen | rs879253733 |
ebi | rs879253733 |
HLI | rs879253733 |
Exac | rs879253733 |
Gnomad | rs879253733 |
Varsome | rs879253733 |
LitVar | rs879253733 |
Map | rs879253733 |
PheGenI | rs879253733 |
Biobank | rs879253733 |
1000 genomes | rs879253733 |
hgdp | rs879253733 |
ensembl | rs879253733 |
geneview | rs879253733 |
scholar | rs879253733 |
rs879253733 | |
pharmgkb | rs879253733 |
gwascentral | rs879253733 |
openSNP | rs879253733 |
23andMe | rs879253733 |
SNPshot | rs879253733 |
SNPdbe | rs879253733 |
MSV3d | rs879253733 |
GWAS Ctlg | rs879253733 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253733(G;G) |
Alt | rs879253733(G;G) |
Reference | Rs879253733(A;A) |
Significance | Pathogenic |
Disease | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
Variation | info |
Gene | HELLS |
CLNDBN | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
Reversed | 0 |
HGVS | NC_000010.10:g.96354459A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210912.1, |