rs724160017
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs724160017(C;T) |
Make rs724160017(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 130139808 |
Gene | AIFM1, RAB33A |
is a | snp |
is | mentioned by |
dbSNP | rs724160017 |
dbSNP (classic) | rs724160017 |
ClinGen | rs724160017 |
ebi | rs724160017 |
HLI | rs724160017 |
Exac | rs724160017 |
Gnomad | rs724160017 |
Varsome | rs724160017 |
LitVar | rs724160017 |
Map | rs724160017 |
PheGenI | rs724160017 |
Biobank | rs724160017 |
1000 genomes | rs724160017 |
hgdp | rs724160017 |
ensembl | rs724160017 |
geneview | rs724160017 |
scholar | rs724160017 |
rs724160017 | |
pharmgkb | rs724160017 |
gwascentral | rs724160017 |
openSNP | rs724160017 |
23andMe | rs724160017 |
SNPshot | rs724160017 |
SNPdbe | rs724160017 |
MSV3d | rs724160017 |
GWAS Ctlg | rs724160017 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724160017(T;T) |
Alt | rs724160017(T;T) |
Reference | Rs724160017(C;C) |
Significance | Probable-Pathogenic |
Disease | Deafness |
Variation | info |
Gene | AIFM1 |
CLNDBN | Deafness, X-linked 5 |
Reversed | 1 |
HGVS | NC_000023.10:g.129273783G>A |
CLNSRC | |
CLNACC | RCV000149860.1, |