rs138083522
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
Make rs138083522(C;T) |
Make rs138083522(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 10 |
Position | 17071457 |
Gene | CUBN |
is a | snp |
is | mentioned by |
dbSNP | rs138083522 |
dbSNP (classic) | rs138083522 |
ClinGen | rs138083522 |
ebi | rs138083522 |
HLI | rs138083522 |
Exac | rs138083522 |
Gnomad | rs138083522 |
Varsome | rs138083522 |
LitVar | rs138083522 |
Map | rs138083522 |
PheGenI | rs138083522 |
Biobank | rs138083522 |
1000 genomes | rs138083522 |
hgdp | rs138083522 |
ensembl | rs138083522 |
geneview | rs138083522 |
scholar | rs138083522 |
rs138083522 | |
pharmgkb | rs138083522 |
gwascentral | rs138083522 |
openSNP | rs138083522 |
23andMe | rs138083522 |
SNPshot | rs138083522 |
SNPdbe | rs138083522 |
MSV3d | rs138083522 |
GWAS Ctlg | rs138083522 |
Max Magnitude | 0 |
CUBN gene, c.2594G>A (p.Ser865Asn)
minor allele reported as pathogenic in ClinVar but condition not specified
ClinVar | |
---|---|
Risk | rs138083522(A;A) rs138083522(T;T) |
Alt | rs138083522(A;A) rs138083522(T;T) |
Reference | Rs138083522(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CUBN |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.17113456C>T |
CLNSRC | |
CLNACC | RCV000255679.1, |