rs1538660
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | normal |
(C;T) | 0.1 | Likely to be a benign variant |
Make rs1538660(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 108879545 |
Gene | IKBKAP |
is a | snp |
is | mentioned by |
dbSNP | rs1538660 |
dbSNP (classic) | rs1538660 |
ClinGen | rs1538660 |
ebi | rs1538660 |
HLI | rs1538660 |
Exac | rs1538660 |
Gnomad | rs1538660 |
Varsome | rs1538660 |
LitVar | rs1538660 |
Map | rs1538660 |
PheGenI | rs1538660 |
Biobank | rs1538660 |
1000 genomes | rs1538660 |
hgdp | rs1538660 |
ensembl | rs1538660 |
geneview | rs1538660 |
scholar | rs1538660 |
rs1538660 | |
pharmgkb | rs1538660 |
gwascentral | rs1538660 |
openSNP | rs1538660 |
23andMe | rs1538660 |
SNPshot | rs1538660 |
SNPdbe | rs1538660 |
MSV3d | rs1538660 |
GWAS Ctlg | rs1538660 |
GMAF | 0.2231 |
Max Magnitude | 0.1 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1538660(T;T) |
Alt | rs1538660(T;T) |
Reference | Rs1538660(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Familial dysautonomia |
Variation | info |
Gene | IKBKAP |
CLNDBN | not specified Familial dysautonomia |
Reversed | 1 |
HGVS | NC_000009.11:g.111641825G>A |
CLNSRC | |
CLNACC | RCV000245565.1, RCV000268649.1, |