rs104893644
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893644(A;A) |
Make rs104893644(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 27092366 |
Gene | KHK |
is a | snp |
is | mentioned by |
dbSNP | rs104893644 |
dbSNP (classic) | rs104893644 |
ClinGen | rs104893644 |
ebi | rs104893644 |
HLI | rs104893644 |
Exac | rs104893644 |
Gnomad | rs104893644 |
Varsome | rs104893644 |
LitVar | rs104893644 |
Map | rs104893644 |
PheGenI | rs104893644 |
Biobank | rs104893644 |
1000 genomes | rs104893644 |
hgdp | rs104893644 |
ensembl | rs104893644 |
geneview | rs104893644 |
scholar | rs104893644 |
rs104893644 | |
pharmgkb | rs104893644 |
gwascentral | rs104893644 |
openSNP | rs104893644 |
23andMe | rs104893644 |
SNPshot | rs104893644 |
SNPdbe | rs104893644 |
MSV3d | rs104893644 |
GWAS Ctlg | rs104893644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893644(A;A) |
Alt | rs104893644(A;A) |
Reference | Rs104893644(G;G) |
Significance | Other |
Disease | Fructosuria |
Variation | info |
Gene | KHK |
CLNDBN | Fructosuria, essential |
Reversed | 0 |
HGVS | NC_000002.11:g.27315234G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012812.4, |