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rs2255543

From SNPedia

Orientationminus
Stabilizedminus
Make rs2255543(A;A)
Make rs2255543(A;T)
Make rs2255543(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position120670469
GeneHGD
is asnp
is mentioned by
dbSNPrs2255543
ebirs2255543
HLIrs2255543
Exacrs2255543
Varsomers2255543
Maprs2255543
PheGenIrs2255543
hapmaprs2255543
1000 genomesrs2255543
hgdprs2255543
ensemblrs2255543
gopubmedrs2255543
geneviewrs2255543
scholarrs2255543
googlers2255543
pharmgkbrs2255543
gwascentralrs2255543
openSNPrs2255543
23andMers2255543
23andMe allrs2255543
SNP Nexus

SNPshotrs2255543
SNPdbers2255543
MSV3drs2255543
GWAS Ctlgrs2255543
GMAF0.2635
Max Magnitude
Venter snp
Source plos
Gene HGD
allele A
frequency
sift TOLERATED
HuRef 1103656210399
Disease Association Defects in HGD are the cause of alkaptonuria (AKU) (MIM:203500). AKU is an autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.



? (A;A) (A;T) (T;T)


GET Evidence
HGD-Q80H
aa_change Gln80His
aa_change_short Q80H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.744837
summary