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rs200808744

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200808744(C;T)
Make rs200808744(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120674919
GeneHGD
is asnp
is mentioned by
dbSNPrs200808744
dbSNP (old)rs200808744
ClinGenrs200808744
ebirs200808744
HLIrs200808744
Exacrs200808744
Gnomadrs200808744
Varsomers200808744
Maprs200808744
PheGenIrs200808744
Biobankrs200808744
1000 genomesrs200808744
hgdprs200808744
ensemblrs200808744
gopubmedrs200808744
geneviewrs200808744
scholarrs200808744
googlers200808744
pharmgkbrs200808744
gwascentralrs200808744
openSNPrs200808744
23andMers200808744
23andMe allrs200808744
SNPshotrs200808744
SNPdbers200808744
MSV3drs200808744
GWAS Ctlgrs200808744
Max Magnitude0
ClinVar
Risk rs200808744(T;T)
Alt rs200808744(T;T)
Reference Rs200808744(C;C)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 0
HGVS NC_000003.11:g.120393766C>T
CLNSRC
CLNACC RCV000412076.1,