rs878853222
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs878853222(-;ACCACCCCATCAGCACTCACCCGCCCTACGTGCCC) |
Make rs878853222(ACCACCCCATCAGCACTCACCCGCCCTACGTGCCC;ACCACCCCATCAGCACTCACCCGCCCTACGTGCCC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 8058744 |
Gene | GATA3, LOC107984204 |
is a | snp |
is | mentioned by |
dbSNP | rs878853222 |
dbSNP (classic) | rs878853222 |
ClinGen | rs878853222 |
ebi | rs878853222 |
HLI | rs878853222 |
Exac | rs878853222 |
Gnomad | rs878853222 |
Varsome | rs878853222 |
LitVar | rs878853222 |
Map | rs878853222 |
PheGenI | rs878853222 |
Biobank | rs878853222 |
1000 genomes | rs878853222 |
hgdp | rs878853222 |
ensembl | rs878853222 |
geneview | rs878853222 |
scholar | rs878853222 |
rs878853222 | |
pharmgkb | rs878853222 |
gwascentral | rs878853222 |
openSNP | rs878853222 |
23andMe | rs878853222 |
SNPshot | rs878853222 |
SNPdbe | rs878853222 |
MSV3d | rs878853222 |
GWAS Ctlg | rs878853222 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853222(ACCACCCCATCAGCACTCACCCGCCCTACGTGCCC;ACCACCCCATCAGCACTCACCCGCCCTACGTGCCC) rs878853222(C;C) |
Alt | rs878853222(ACCACCCCATCAGCACTCACCCGCCCTACGTGCCC;ACCACCCCATCAGCACTCACCCGCCCTACGTGCCC) rs878853222(C;C) |
Reference | Rs878853222(-;-) |
Significance | Pathogenic |
Disease | Barakat syndrome not provided |
Variation | info |
Gene | GATA3 |
CLNDBN | Barakat syndrome not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.8100707_8100708insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC; NC_000010.10:g.8100707dupC |
CLNSRC | |
CLNACC | RCV000225007.1, RCV000316770.1, |