rs17853166
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | Normal |
Make rs17853166(C;C) |
Make rs17853166(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 108917660 |
Gene | IKBKAP |
is a | snp |
is | mentioned by |
dbSNP | rs17853166 |
dbSNP (classic) | rs17853166 |
ClinGen | rs17853166 |
ebi | rs17853166 |
HLI | rs17853166 |
Exac | rs17853166 |
Gnomad | rs17853166 |
Varsome | rs17853166 |
LitVar | rs17853166 |
Map | rs17853166 |
PheGenI | rs17853166 |
Biobank | rs17853166 |
1000 genomes | rs17853166 |
hgdp | rs17853166 |
ensembl | rs17853166 |
geneview | rs17853166 |
scholar | rs17853166 |
rs17853166 | |
pharmgkb | rs17853166 |
gwascentral | rs17853166 |
openSNP | rs17853166 |
23andMe | rs17853166 |
SNPshot | rs17853166 |
SNPdbe | rs17853166 |
MSV3d | rs17853166 |
GWAS Ctlg | rs17853166 |
GMAF | 0.01102 |
Max Magnitude | 0 |
Variant of Unknown Significance
? | (C;T) (T;T) | |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs17853166(C;C) |
Alt | rs17853166(C;C) |
Reference | Rs17853166(T;T) |
Significance | Other |
Disease | not specified Familial dysautonomia |
Variation | info |
Gene | IKBKAP |
CLNDBN | not specified Familial dysautonomia |
Reversed | 0 |
HGVS | NC_000009.11:g.111679940T>C |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000125396.1, RCV000353935.1, |