rs727504076
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAGTTGTTTTCAC;CAGTTGTTTTCAC) | 0 | common in clinvar |
Make rs727504076(-;-) |
Make rs727504076(-;CAGTTGTTTTCAC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 92489833 |
Gene | GATAD1, PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs727504076 |
dbSNP (classic) | rs727504076 |
ClinGen | rs727504076 |
ebi | rs727504076 |
HLI | rs727504076 |
Exac | rs727504076 |
Gnomad | rs727504076 |
Varsome | rs727504076 |
LitVar | rs727504076 |
Map | rs727504076 |
PheGenI | rs727504076 |
Biobank | rs727504076 |
1000 genomes | rs727504076 |
hgdp | rs727504076 |
ensembl | rs727504076 |
geneview | rs727504076 |
scholar | rs727504076 |
rs727504076 | |
pharmgkb | rs727504076 |
gwascentral | rs727504076 |
openSNP | rs727504076 |
23andMe | rs727504076 |
SNPshot | rs727504076 |
SNPdbe | rs727504076 |
MSV3d | rs727504076 |
GWAS Ctlg | rs727504076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504076(-;-) |
Alt | rs727504076(-;-) |
Reference | Rs727504076(CAGTTGTTTTCAC;CAGTTGTTTTCAC) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PEX1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.92119147_92119159delGTGAAAACAACTG |
CLNSRC | |
CLNACC | RCV000153670.3, |