rs61750412
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs61750412(-;-) |
Make rs61750412(-;CA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 92504768 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs61750412 |
dbSNP (classic) | rs61750412 |
ClinGen | rs61750412 |
ebi | rs61750412 |
HLI | rs61750412 |
Exac | rs61750412 |
Gnomad | rs61750412 |
Varsome | rs61750412 |
LitVar | rs61750412 |
Map | rs61750412 |
PheGenI | rs61750412 |
Biobank | rs61750412 |
1000 genomes | rs61750412 |
hgdp | rs61750412 |
ensembl | rs61750412 |
geneview | rs61750412 |
scholar | rs61750412 |
rs61750412 | |
pharmgkb | rs61750412 |
gwascentral | rs61750412 |
openSNP | rs61750412 |
23andMe | rs61750412 |
SNPshot | rs61750412 |
SNPdbe | rs61750412 |
MSV3d | rs61750412 |
GWAS Ctlg | rs61750412 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61750412(-;-) |
Alt | rs61750412(-;-) |
Reference | Rs61750412(CA;CA) |
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.92134082_92134083delTG |
CLNSRC | |
CLNACC | RCV000409983.1, RCV000411506.1, |