rs1129187
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;T) | 0 |
Make rs1129187(A;A) |
Make rs1129187(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 42964462 |
Gene | PEX6 |
is a | snp |
is | mentioned by |
dbSNP | rs1129187 |
dbSNP (classic) | rs1129187 |
ClinGen | rs1129187 |
ebi | rs1129187 |
HLI | rs1129187 |
Exac | rs1129187 |
Gnomad | rs1129187 |
Varsome | rs1129187 |
LitVar | rs1129187 |
Map | rs1129187 |
PheGenI | rs1129187 |
Biobank | rs1129187 |
1000 genomes | rs1129187 |
hgdp | rs1129187 |
ensembl | rs1129187 |
geneview | rs1129187 |
scholar | rs1129187 |
rs1129187 | |
pharmgkb | rs1129187 |
gwascentral | rs1129187 |
openSNP | rs1129187 |
23andMe | rs1129187 |
SNPshot | rs1129187 |
SNPdbe | rs1129187 |
MSV3d | rs1129187 |
GWAS Ctlg | rs1129187 |
GMAF | 0.3287 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1129187(A;A) rs1129187(G;G) |
Alt | rs1129187(A;A) rs1129187(G;G) |
Reference | Rs1129187(C;C) |
Significance | Non-pathogenic |
Disease | not specified Zellweger syndrome |
Variation | info |
Gene | PEX6 |
CLNDBN | not specified Zellweger syndrome |
Reversed | 1 |
HGVS | NC_000006.11:g.42932200G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000078574.6, RCV000407233.1, |