rs267607012
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267607012(C;C) |
Make rs267607012(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 116895184 |
Gene | RFX6 |
is a | snp |
is | mentioned by |
dbSNP | rs267607012 |
dbSNP (classic) | rs267607012 |
ClinGen | rs267607012 |
ebi | rs267607012 |
HLI | rs267607012 |
Exac | rs267607012 |
Gnomad | rs267607012 |
Varsome | rs267607012 |
LitVar | rs267607012 |
Map | rs267607012 |
PheGenI | rs267607012 |
Biobank | rs267607012 |
1000 genomes | rs267607012 |
hgdp | rs267607012 |
ensembl | rs267607012 |
geneview | rs267607012 |
scholar | rs267607012 |
rs267607012 | |
pharmgkb | rs267607012 |
gwascentral | rs267607012 |
openSNP | rs267607012 |
23andMe | rs267607012 |
SNPshot | rs267607012 |
SNPdbe | rs267607012 |
MSV3d | rs267607012 |
GWAS Ctlg | rs267607012 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607012(C;C) |
Alt | rs267607012(C;C) |
Reference | Rs267607012(T;T) |
Significance | Pathogenic |
Disease | Mitchell-Riley syndrome |
Variation | info |
Gene | RFX6 |
CLNDBN | Mitchell-Riley syndrome |
Reversed | 0 |
HGVS | NC_000006.11:g.117216347T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000528.3, |