rs267607117
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607117(G;T) |
Make rs267607117(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 93780747 |
Gene | TMEM67 |
is a | snp |
is | mentioned by |
dbSNP | rs267607117 |
dbSNP (classic) | rs267607117 |
ClinGen | rs267607117 |
ebi | rs267607117 |
HLI | rs267607117 |
Exac | rs267607117 |
Gnomad | rs267607117 |
Varsome | rs267607117 |
LitVar | rs267607117 |
Map | rs267607117 |
PheGenI | rs267607117 |
Biobank | rs267607117 |
1000 genomes | rs267607117 |
hgdp | rs267607117 |
ensembl | rs267607117 |
geneview | rs267607117 |
scholar | rs267607117 |
rs267607117 | |
pharmgkb | rs267607117 |
gwascentral | rs267607117 |
openSNP | rs267607117 |
23andMe | rs267607117 |
SNPshot | rs267607117 |
SNPdbe | rs267607117 |
MSV3d | rs267607117 |
GWAS Ctlg | rs267607117 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607117(T;T) |
Alt | rs267607117(T;T) |
Reference | Rs267607117(G;G) |
Significance | Pathogenic |
Disease | Nephronophthisis 11 |
Variation | info |
Gene | TMEM67 |
CLNDBN | Nephronophthisis 11 |
Reversed | 0 |
HGVS | NC_000008.10:g.94792975G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001453.4, |