rs267606821
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267606821(C;C) |
Make rs267606821(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 212859026 |
Gene | FLVCR1, FLVCR1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606821 |
dbSNP (classic) | rs267606821 |
ClinGen | rs267606821 |
ebi | rs267606821 |
HLI | rs267606821 |
Exac | rs267606821 |
Gnomad | rs267606821 |
Varsome | rs267606821 |
LitVar | rs267606821 |
Map | rs267606821 |
PheGenI | rs267606821 |
Biobank | rs267606821 |
1000 genomes | rs267606821 |
hgdp | rs267606821 |
ensembl | rs267606821 |
geneview | rs267606821 |
scholar | rs267606821 |
rs267606821 | |
pharmgkb | rs267606821 |
gwascentral | rs267606821 |
openSNP | rs267606821 |
23andMe | rs267606821 |
SNPshot | rs267606821 |
SNPdbe | rs267606821 |
MSV3d | rs267606821 |
GWAS Ctlg | rs267606821 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606821(C;C) |
Alt | rs267606821(C;C) |
Reference | Rs267606821(T;T) |
Significance | Pathogenic |
Disease | Posterior column ataxia with retinitis pigmentosa |
Variation | info |
Gene | FLVCR1-AS1 FLVCR1 |
CLNDBN | Posterior column ataxia with retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000001.10:g.213032368T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001935.4, |