rs1057517488
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs1057517488(-;-) |
Make rs1057517488(-;GA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 92517440 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517488 |
dbSNP (classic) | rs1057517488 |
ClinGen | rs1057517488 |
ebi | rs1057517488 |
HLI | rs1057517488 |
Exac | rs1057517488 |
Gnomad | rs1057517488 |
Varsome | rs1057517488 |
LitVar | rs1057517488 |
Map | rs1057517488 |
PheGenI | rs1057517488 |
Biobank | rs1057517488 |
1000 genomes | rs1057517488 |
hgdp | rs1057517488 |
ensembl | rs1057517488 |
geneview | rs1057517488 |
scholar | rs1057517488 |
rs1057517488 | |
pharmgkb | rs1057517488 |
gwascentral | rs1057517488 |
openSNP | rs1057517488 |
23andMe | rs1057517488 |
SNPshot | rs1057517488 |
SNPdbe | rs1057517488 |
MSV3d | rs1057517488 |
GWAS Ctlg | rs1057517488 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517488(-;-) |
Alt | rs1057517488(-;-) |
Reference | Rs1057517488(GA;GA) |
Significance | Probable-Pathogenic |
Disease | Zellweger syndrome Peroxisome biogenesis disorder 1B |
Variation | info |
Gene | PEX1 |
CLNDBN | Zellweger syndrome Peroxisome biogenesis disorder 1B |
Reversed | 1 |
HGVS | NC_000007.13:g.92146754_92146755delTC |
CLNSRC | |
CLNACC | RCV000409070.1, RCV000410602.1, |