rs267607173
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267607173(C;T) |
Make rs267607173(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 77444311 |
Gene | VIPAS39 |
is a | snp |
is | mentioned by |
dbSNP | rs267607173 |
dbSNP (classic) | rs267607173 |
ClinGen | rs267607173 |
ebi | rs267607173 |
HLI | rs267607173 |
Exac | rs267607173 |
Gnomad | rs267607173 |
Varsome | rs267607173 |
LitVar | rs267607173 |
Map | rs267607173 |
PheGenI | rs267607173 |
Biobank | rs267607173 |
1000 genomes | rs267607173 |
hgdp | rs267607173 |
ensembl | rs267607173 |
geneview | rs267607173 |
scholar | rs267607173 |
rs267607173 | |
pharmgkb | rs267607173 |
gwascentral | rs267607173 |
openSNP | rs267607173 |
23andMe | rs267607173 |
SNPshot | rs267607173 |
SNPdbe | rs267607173 |
MSV3d | rs267607173 |
GWAS Ctlg | rs267607173 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607173(T;T) |
Alt | rs267607173(T;T) |
Reference | Rs267607173(C;C) |
Significance | Pathogenic |
Disease | Arthrogryposis |
Variation | info |
Gene | VIPAS39 |
CLNDBN | Arthrogryposis, renal dysfunction, and cholestasis 2 |
Reversed | 1 |
HGVS | NC_000014.8:g.77910654G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000131.4, |