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rs2255543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2255543(A;T)
Make rs2255543(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position120670469
GeneHGD
is asnp
is mentioned by
dbSNPrs2255543
dbSNP (old)rs2255543
ClinGenrs2255543
ebirs2255543
HLIrs2255543
Exacrs2255543
Gnomadrs2255543
Varsomers2255543
Maprs2255543
PheGenIrs2255543
Biobankrs2255543
1000 genomesrs2255543
hgdprs2255543
ensemblrs2255543
gopubmedrs2255543
geneviewrs2255543
scholarrs2255543
googlers2255543
pharmgkbrs2255543
gwascentralrs2255543
openSNPrs2255543
23andMers2255543
23andMe allrs2255543
SNPshotrs2255543
SNPdbers2255543
MSV3drs2255543
GWAS Ctlgrs2255543
GMAF0.2635
Max Magnitude0
? (A;A) (A;T) (T;T)



ClinVar
Risk rs2255543(T;T)
Alt rs2255543(T;T)
Reference Rs2255543(A;A)
Significance Non-pathogenic
Disease not specified Alkaptonuria
Variation info
Gene HGD
CLNDBN not specified Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120389316T>A
CLNSRC
CLNACC RCV000252512.1, RCV000306096.1,