rs1057517506
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057517506(-;C) |
Make rs1057517506(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 92518181 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517506 |
dbSNP (classic) | rs1057517506 |
ClinGen | rs1057517506 |
ebi | rs1057517506 |
HLI | rs1057517506 |
Exac | rs1057517506 |
Gnomad | rs1057517506 |
Varsome | rs1057517506 |
LitVar | rs1057517506 |
Map | rs1057517506 |
PheGenI | rs1057517506 |
Biobank | rs1057517506 |
1000 genomes | rs1057517506 |
hgdp | rs1057517506 |
ensembl | rs1057517506 |
geneview | rs1057517506 |
scholar | rs1057517506 |
rs1057517506 | |
pharmgkb | rs1057517506 |
gwascentral | rs1057517506 |
openSNP | rs1057517506 |
23andMe | rs1057517506 |
SNPshot | rs1057517506 |
SNPdbe | rs1057517506 |
MSV3d | rs1057517506 |
GWAS Ctlg | rs1057517506 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517506(C;C) |
Alt | rs1057517506(C;C) |
Reference | Rs1057517506(-;-) |
Significance | Probable-Pathogenic |
Disease | Peroxisome biogenesis disorder 1B Zellweger syndrome |
Variation | info |
Gene | PEX1 |
CLNDBN | Peroxisome biogenesis disorder 1B Zellweger syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.92147496dupG |
CLNSRC | |
CLNACC | RCV000410137.1, RCV000412173.1, |