rs200691042
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs200691042(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 61839695 |
Gene | FAM161A |
is a | snp |
is | mentioned by |
dbSNP | rs200691042 |
dbSNP (classic) | rs200691042 |
ClinGen | rs200691042 |
ebi | rs200691042 |
HLI | rs200691042 |
Exac | rs200691042 |
Gnomad | rs200691042 |
Varsome | rs200691042 |
LitVar | rs200691042 |
Map | rs200691042 |
PheGenI | rs200691042 |
Biobank | rs200691042 |
1000 genomes | rs200691042 |
hgdp | rs200691042 |
ensembl | rs200691042 |
geneview | rs200691042 |
scholar | rs200691042 |
rs200691042 | |
pharmgkb | rs200691042 |
gwascentral | rs200691042 |
openSNP | rs200691042 |
23andMe | rs200691042 |
SNPshot | rs200691042 |
SNPdbe | rs200691042 |
MSV3d | rs200691042 |
GWAS Ctlg | rs200691042 |
Max Magnitude | 0 |
aka c.1309A>T (p.Arg437Ter or R437X)
ClinVar | |
---|---|
Risk | rs200691042(A;A) |
Alt | rs200691042(A;A) |
Reference | Rs200691042(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 28 not provided |
Variation | info |
Gene | FAM161A |
CLNDBN | Retinitis pigmentosa 28 not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.62066830T>A |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000000053.3, RCV000153226.3, |