rs397704718
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs397704718(-;-) |
Make rs397704718(-;CA) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 61839648 |
Gene | FAM161A |
is a | snp |
is | mentioned by |
dbSNP | rs397704718 |
dbSNP (classic) | rs397704718 |
ClinGen | rs397704718 |
ebi | rs397704718 |
HLI | rs397704718 |
Exac | rs397704718 |
Gnomad | rs397704718 |
Varsome | rs397704718 |
LitVar | rs397704718 |
Map | rs397704718 |
PheGenI | rs397704718 |
Biobank | rs397704718 |
1000 genomes | rs397704718 |
hgdp | rs397704718 |
ensembl | rs397704718 |
geneview | rs397704718 |
scholar | rs397704718 |
rs397704718 | |
pharmgkb | rs397704718 |
gwascentral | rs397704718 |
openSNP | rs397704718 |
23andMe | rs397704718 |
SNPshot | rs397704718 |
SNPdbe | rs397704718 |
MSV3d | rs397704718 |
GWAS Ctlg | rs397704718 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397704718(-;-) |
Alt | rs397704718(-;-) |
Reference | Rs397704718(CA;CA) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 28 not provided |
Variation | info |
Gene | FAM161A |
CLNDBN | Retinitis pigmentosa 28 not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.62066783_62066784delTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000054.2, RCV000414251.1, |