rs988395114
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs988395114(A;A) |
Make rs988395114(A;G) |
Make rs988395114(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 54845787 |
Gene | GCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs988395114 |
dbSNP (classic) | rs988395114 |
ClinGen | rs988395114 |
ebi | rs988395114 |
HLI | rs988395114 |
Exac | rs988395114 |
Gnomad | rs988395114 |
Varsome | rs988395114 |
LitVar | rs988395114 |
Map | rs988395114 |
PheGenI | rs988395114 |
Biobank | rs988395114 |
1000 genomes | rs988395114 |
hgdp | rs988395114 |
ensembl | rs988395114 |
geneview | rs988395114 |
scholar | rs988395114 |
rs988395114 | |
pharmgkb | rs988395114 |
gwascentral | rs988395114 |
openSNP | rs988395114 |
23andMe | rs988395114 |
SNPshot | rs988395114 |
SNPdbe | rs988395114 |
MSV3d | rs988395114 |
GWAS Ctlg | rs988395114 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs988395114(T;T) |
Alt | rs988395114(T;T) |
Reference | Rs988395114(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | GCH1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.55312505C>T |
CLNSRC | |
CLNACC | RCV000440945.1, |