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rs606231307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231307(A;G)
Make rs606231307(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position142960633
GeneKYNU
is asnp
is mentioned by
dbSNPrs606231307
dbSNP (classic)rs606231307
ClinGenrs606231307
ebirs606231307
HLIrs606231307
Exacrs606231307
Gnomadrs606231307
Varsomers606231307
LitVarrs606231307
Maprs606231307
PheGenIrs606231307
Biobankrs606231307
1000 genomesrs606231307
hgdprs606231307
ensemblrs606231307
geneviewrs606231307
scholarrs606231307
googlers606231307
pharmgkbrs606231307
gwascentralrs606231307
openSNPrs606231307
23andMers606231307
SNPshotrs606231307
SNPdbers606231307
MSV3drs606231307
GWAS Ctlgrs606231307
Max Magnitude0
ClinVar
Risk rs606231307(G;G)
Alt rs606231307(G;G)
Reference Rs606231307(A;A)
Significance Pathogenic
Disease Hydroxykynureninuria
Variation info
Gene KYNU
CLNDBN Hydroxykynureninuria
Reversed 0
HGVS NC_000002.11:g.143718202A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000148021.5,