rs773107808
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs773107808(C;T) |
Make rs773107808(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 70432151 |
Gene | CTH |
is a | snp |
is | mentioned by |
dbSNP | rs773107808 |
dbSNP (classic) | rs773107808 |
ClinGen | rs773107808 |
ebi | rs773107808 |
HLI | rs773107808 |
Exac | rs773107808 |
Gnomad | rs773107808 |
Varsome | rs773107808 |
LitVar | rs773107808 |
Map | rs773107808 |
PheGenI | rs773107808 |
Biobank | rs773107808 |
1000 genomes | rs773107808 |
hgdp | rs773107808 |
ensembl | rs773107808 |
geneview | rs773107808 |
scholar | rs773107808 |
rs773107808 | |
pharmgkb | rs773107808 |
gwascentral | rs773107808 |
openSNP | rs773107808 |
23andMe | rs773107808 |
SNPshot | rs773107808 |
SNPdbe | rs773107808 |
MSV3d | rs773107808 |
GWAS Ctlg | rs773107808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773107808(A;A) rs773107808(T;T) |
Alt | rs773107808(A;A) rs773107808(T;T) |
Reference | Rs773107808(C;C) |
Significance | Probable-Pathogenic |
Disease | Cystathioninuria |
Variation | info |
Gene | CTH |
CLNDBN | Cystathioninuria |
Reversed | 0 |
HGVS | NC_000001.10:g.70897834C>T |
CLNSRC | |
CLNACC | RCV000490299.1, |