rs80356462
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80356462(A;A) |
Make rs80356462(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 45767073 |
Gene | SIX5 |
is a | snp |
is | mentioned by |
dbSNP | rs80356462 |
dbSNP (classic) | rs80356462 |
ClinGen | rs80356462 |
ebi | rs80356462 |
HLI | rs80356462 |
Exac | rs80356462 |
Gnomad | rs80356462 |
Varsome | rs80356462 |
LitVar | rs80356462 |
Map | rs80356462 |
PheGenI | rs80356462 |
Biobank | rs80356462 |
1000 genomes | rs80356462 |
hgdp | rs80356462 |
ensembl | rs80356462 |
geneview | rs80356462 |
scholar | rs80356462 |
rs80356462 | |
pharmgkb | rs80356462 |
gwascentral | rs80356462 |
openSNP | rs80356462 |
23andMe | rs80356462 |
SNPshot | rs80356462 |
SNPdbe | rs80356462 |
MSV3d | rs80356462 |
GWAS Ctlg | rs80356462 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356462(A;A) |
Alt | rs80356462(A;A) |
Reference | Rs80356462(G;G) |
Significance | Pathogenic |
Disease | Branchiootorenal syndrome 2 |
Variation | info |
Gene | SIX5 |
CLNDBN | Branchiootorenal syndrome 2 |
Reversed | 1 |
HGVS | NC_000019.9:g.46270331C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009130.4, |
[PMID 17357085] Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.