rs61750423
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs61750423(-;-) |
Make rs61750423(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 92496766 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs61750423 |
dbSNP (classic) | rs61750423 |
ClinGen | rs61750423 |
ebi | rs61750423 |
HLI | rs61750423 |
Exac | rs61750423 |
Gnomad | rs61750423 |
Varsome | rs61750423 |
LitVar | rs61750423 |
Map | rs61750423 |
PheGenI | rs61750423 |
Biobank | rs61750423 |
1000 genomes | rs61750423 |
hgdp | rs61750423 |
ensembl | rs61750423 |
geneview | rs61750423 |
scholar | rs61750423 |
rs61750423 | |
pharmgkb | rs61750423 |
gwascentral | rs61750423 |
openSNP | rs61750423 |
23andMe | rs61750423 |
SNPshot | rs61750423 |
SNPdbe | rs61750423 |
MSV3d | rs61750423 |
GWAS Ctlg | rs61750423 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61750423(-;-) |
Alt | rs61750423(-;-) |
Reference | Rs61750423(A;A) |
Significance | Probable-Pathogenic |
Disease | Zellweger syndrome |
Variation | info |
Gene | PEX1 |
CLNDBN | Zellweger syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.92126080delT |
CLNSRC | |
CLNACC | RCV000169346.1, |