rs34324426
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs34324426(C;T) |
Make rs34324426(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 42967450 |
Gene | PEX6 |
is a | snp |
is | mentioned by |
dbSNP | rs34324426 |
dbSNP (classic) | rs34324426 |
ClinGen | rs34324426 |
ebi | rs34324426 |
HLI | rs34324426 |
Exac | rs34324426 |
Gnomad | rs34324426 |
Varsome | rs34324426 |
LitVar | rs34324426 |
Map | rs34324426 |
PheGenI | rs34324426 |
Biobank | rs34324426 |
1000 genomes | rs34324426 |
hgdp | rs34324426 |
ensembl | rs34324426 |
geneview | rs34324426 |
scholar | rs34324426 |
rs34324426 | |
pharmgkb | rs34324426 |
gwascentral | rs34324426 |
openSNP | rs34324426 |
23andMe | rs34324426 |
SNPshot | rs34324426 |
SNPdbe | rs34324426 |
MSV3d | rs34324426 |
GWAS Ctlg | rs34324426 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34324426(T;T) |
Alt | rs34324426(T;T) |
Reference | Rs34324426(C;C) |
Significance | Pathogenic |
Disease | not specified Heimler syndrome 2 not provided |
Variation | info |
Gene | PEX6 |
CLNDBN | not specified Heimler syndrome 2 not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.42935188C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000180127.1, RCV000201298.3, RCV000424129.1, |