rs769836601
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TGAC;TGAC) | 0 | common in clinvar |
Make rs769836601(-;-) |
Make rs769836601(-;TGAC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 92489364 |
Gene | GATAD1, PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs769836601 |
dbSNP (classic) | rs769836601 |
ClinGen | rs769836601 |
ebi | rs769836601 |
HLI | rs769836601 |
Exac | rs769836601 |
Gnomad | rs769836601 |
Varsome | rs769836601 |
LitVar | rs769836601 |
Map | rs769836601 |
PheGenI | rs769836601 |
Biobank | rs769836601 |
1000 genomes | rs769836601 |
hgdp | rs769836601 |
ensembl | rs769836601 |
geneview | rs769836601 |
scholar | rs769836601 |
rs769836601 | |
pharmgkb | rs769836601 |
gwascentral | rs769836601 |
openSNP | rs769836601 |
23andMe | rs769836601 |
SNPshot | rs769836601 |
SNPdbe | rs769836601 |
MSV3d | rs769836601 |
GWAS Ctlg | rs769836601 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769836601(-;-) |
Alt | rs769836601(-;-) |
Reference | Rs769836601(TGAC;TGAC) |
Significance | Probable-Pathogenic |
Disease | Zellweger syndrome |
Variation | info |
Gene | PEX1 |
CLNDBN | Zellweger syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.92118678_92118681delTGAC |
CLNSRC | |
CLNACC | RCV000169360.1, |