rs149806989
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs149806989(A;A) |
Make rs149806989(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 92517968 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs149806989 |
dbSNP (classic) | rs149806989 |
ClinGen | rs149806989 |
ebi | rs149806989 |
HLI | rs149806989 |
Exac | rs149806989 |
Gnomad | rs149806989 |
Varsome | rs149806989 |
LitVar | rs149806989 |
Map | rs149806989 |
PheGenI | rs149806989 |
Biobank | rs149806989 |
1000 genomes | rs149806989 |
hgdp | rs149806989 |
ensembl | rs149806989 |
geneview | rs149806989 |
scholar | rs149806989 |
rs149806989 | |
pharmgkb | rs149806989 |
gwascentral | rs149806989 |
openSNP | rs149806989 |
23andMe | rs149806989 |
SNPshot | rs149806989 |
SNPdbe | rs149806989 |
MSV3d | rs149806989 |
GWAS Ctlg | rs149806989 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149806989(A;A) |
Alt | rs149806989(A;A) |
Reference | Rs149806989(G;G) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 1B Zellweger syndrome |
Variation | info |
Gene | PEX1 |
CLNDBN | Peroxisome biogenesis disorder 1B Zellweger syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.92147282G>A |
CLNSRC | |
CLNACC | RCV000409397.1, RCV000411910.1, |