rs727502796
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGTAGTCTATCCA;AGTAGTCTATCCA) | 0 | common in clinvar |
Make rs727502796(AGTAGTCTATCCA;T) |
Make rs727502796(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 13708029 |
Gene | FAR1 |
is a | snp |
is | mentioned by |
dbSNP | rs727502796 |
dbSNP (classic) | rs727502796 |
ClinGen | rs727502796 |
ebi | rs727502796 |
HLI | rs727502796 |
Exac | rs727502796 |
Gnomad | rs727502796 |
Varsome | rs727502796 |
LitVar | rs727502796 |
Map | rs727502796 |
PheGenI | rs727502796 |
Biobank | rs727502796 |
1000 genomes | rs727502796 |
hgdp | rs727502796 |
ensembl | rs727502796 |
geneview | rs727502796 |
scholar | rs727502796 |
rs727502796 | |
pharmgkb | rs727502796 |
gwascentral | rs727502796 |
openSNP | rs727502796 |
23andMe | rs727502796 |
SNPshot | rs727502796 |
SNPdbe | rs727502796 |
MSV3d | rs727502796 |
GWAS Ctlg | rs727502796 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502796(T;T) |
Alt | rs727502796(T;T) |
Reference | Rs727502796(AGTAGTCTATCCA;AGTAGTCTATCCA) |
Significance | Pathogenic |
Disease | Peroxisomal fatty acyl-coa reductase 1 disorder |
Variation | info |
Gene | FAR1 |
CLNDBN | Peroxisomal fatty acyl-coa reductase 1 disorder |
Reversed | 0 |
HGVS | NC_000011.9:g.13729576_13729588delAGTAGTCTATCCAinsT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149592.3, |