rs724160018
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs724160018(C;C) |
Make rs724160018(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 130138700 |
Gene | AIFM1, RAB33A |
is a | snp |
is | mentioned by |
dbSNP | rs724160018 |
dbSNP (classic) | rs724160018 |
ClinGen | rs724160018 |
ebi | rs724160018 |
HLI | rs724160018 |
Exac | rs724160018 |
Gnomad | rs724160018 |
Varsome | rs724160018 |
LitVar | rs724160018 |
Map | rs724160018 |
PheGenI | rs724160018 |
Biobank | rs724160018 |
1000 genomes | rs724160018 |
hgdp | rs724160018 |
ensembl | rs724160018 |
geneview | rs724160018 |
scholar | rs724160018 |
rs724160018 | |
pharmgkb | rs724160018 |
gwascentral | rs724160018 |
openSNP | rs724160018 |
23andMe | rs724160018 |
SNPshot | rs724160018 |
SNPdbe | rs724160018 |
MSV3d | rs724160018 |
GWAS Ctlg | rs724160018 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724160018(C;C) |
Alt | rs724160018(C;C) |
Reference | Rs724160018(T;T) |
Significance | Probable-Pathogenic |
Disease | Deafness |
Variation | info |
Gene | AIFM1 |
CLNDBN | Deafness, X-linked 5 |
Reversed | 1 |
HGVS | NC_000023.10:g.129272675A>G |
CLNSRC | |
CLNACC | RCV000149861.1, |