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rs28941783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28941783(A;A)
Make rs28941783(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position120647041
GeneHGD
is asnp
is mentioned by
dbSNPrs28941783
ebirs28941783
HLIrs28941783
Exacrs28941783
Varsomers28941783
Maprs28941783
PheGenIrs28941783
hapmaprs28941783
1000 genomesrs28941783
hgdprs28941783
ensemblrs28941783
gopubmedrs28941783
geneviewrs28941783
scholarrs28941783
googlers28941783
pharmgkbrs28941783
gwascentralrs28941783
openSNPrs28941783
23andMers28941783
23andMe allrs28941783
SNP Nexus

SNPshotrs28941783
SNPdbers28941783
MSV3drs28941783
GWAS Ctlgrs28941783
Max Magnitude0
OMIM607474
DescALKAPTONURIA
Variant0003
Relatedalso
ClinVar
Risk rs28941783(A;A)
Alt rs28941783(A;A)
Reference rs28941783(G;G)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120365888C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003318.4,