rs1057517500
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057517500(A;G) |
Make rs1057517500(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 92518257 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517500 |
dbSNP (classic) | rs1057517500 |
ClinGen | rs1057517500 |
ebi | rs1057517500 |
HLI | rs1057517500 |
Exac | rs1057517500 |
Gnomad | rs1057517500 |
Varsome | rs1057517500 |
LitVar | rs1057517500 |
Map | rs1057517500 |
PheGenI | rs1057517500 |
Biobank | rs1057517500 |
1000 genomes | rs1057517500 |
hgdp | rs1057517500 |
ensembl | rs1057517500 |
geneview | rs1057517500 |
scholar | rs1057517500 |
rs1057517500 | |
pharmgkb | rs1057517500 |
gwascentral | rs1057517500 |
openSNP | rs1057517500 |
23andMe | rs1057517500 |
SNPshot | rs1057517500 |
SNPdbe | rs1057517500 |
MSV3d | rs1057517500 |
GWAS Ctlg | rs1057517500 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517500(G;G) |
Alt | rs1057517500(G;G) |
Reference | Rs1057517500(A;A) |
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.92147571T>C |
CLNSRC | |
CLNACC | RCV000409764.1, RCV000410357.1, |