rs397704714
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397704714(-;TAAGAGC) |
Make rs397704714(TAAGAGC;TAAGAGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 25307980 |
Gene | ABHD12 |
is a | snp |
is | mentioned by |
dbSNP | rs397704714 |
dbSNP (classic) | rs397704714 |
ClinGen | rs397704714 |
ebi | rs397704714 |
HLI | rs397704714 |
Exac | rs397704714 |
Gnomad | rs397704714 |
Varsome | rs397704714 |
LitVar | rs397704714 |
Map | rs397704714 |
PheGenI | rs397704714 |
Biobank | rs397704714 |
1000 genomes | rs397704714 |
hgdp | rs397704714 |
ensembl | rs397704714 |
geneview | rs397704714 |
scholar | rs397704714 |
rs397704714 | |
pharmgkb | rs397704714 |
gwascentral | rs397704714 |
openSNP | rs397704714 |
23andMe | rs397704714 |
SNPshot | rs397704714 |
SNPdbe | rs397704714 |
MSV3d | rs397704714 |
GWAS Ctlg | rs397704714 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397704714(TAAGAGC;TAAGAGC) |
Alt | rs397704714(TAAGAGC;TAAGAGC) |
Reference | Rs397704714(-;-) |
Significance | Pathogenic |
Disease | Polyneuropathy |
Variation | info |
Gene | ABHD12 |
CLNDBN | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
Reversed | 1 |
HGVS | NC_000020.10:g.25288617_25288623dupGCTCTTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000043.3, |