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rs104893644

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893644(A;A)
Make rs104893644(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position27092366
GeneKHK
is asnp
is mentioned by
dbSNPrs104893644
dbSNP (classic)rs104893644
ClinGenrs104893644
ebirs104893644
HLIrs104893644
Exacrs104893644
Gnomadrs104893644
Varsomers104893644
LitVarrs104893644
Maprs104893644
PheGenIrs104893644
Biobankrs104893644
1000 genomesrs104893644
hgdprs104893644
ensemblrs104893644
geneviewrs104893644
scholarrs104893644
googlers104893644
pharmgkbrs104893644
gwascentralrs104893644
openSNPrs104893644
23andMers104893644
SNPshotrs104893644
SNPdbers104893644
MSV3drs104893644
GWAS Ctlgrs104893644
Max Magnitude0
OMIM229800
Desc
Variant0002
Relatedalso
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,