rs398122360
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122360(C;T) |
Make rs398122360(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 27101154 |
Gene | HOXA2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122360 |
dbSNP (classic) | rs398122360 |
ClinGen | rs398122360 |
ebi | rs398122360 |
HLI | rs398122360 |
Exac | rs398122360 |
Gnomad | rs398122360 |
Varsome | rs398122360 |
LitVar | rs398122360 |
Map | rs398122360 |
PheGenI | rs398122360 |
Biobank | rs398122360 |
1000 genomes | rs398122360 |
hgdp | rs398122360 |
ensembl | rs398122360 |
geneview | rs398122360 |
scholar | rs398122360 |
rs398122360 | |
pharmgkb | rs398122360 |
gwascentral | rs398122360 |
openSNP | rs398122360 |
23andMe | rs398122360 |
SNPshot | rs398122360 |
SNPdbe | rs398122360 |
MSV3d | rs398122360 |
GWAS Ctlg | rs398122360 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122360(T;T) |
Alt | rs398122360(T;T) |
Reference | Rs398122360(C;C) |
Significance | Pathogenic |
Disease | Microtia |
Variation | info |
Gene | HOXA2 |
CLNDBN | Microtia, hearing impairment, and cleft palate |
Reversed | 1 |
HGVS | NC_000007.13:g.27140773G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074433.5, |