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rs28942100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28942100(C;T)
Make rs28942100(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position120644405
GeneHGD
is asnp
is mentioned by
dbSNPrs28942100
ebirs28942100
HLIrs28942100
Exacrs28942100
Varsomers28942100
Maprs28942100
PheGenIrs28942100
hapmaprs28942100
1000 genomesrs28942100
hgdprs28942100
ensemblrs28942100
gopubmedrs28942100
geneviewrs28942100
scholarrs28942100
googlers28942100
pharmgkbrs28942100
gwascentralrs28942100
openSNPrs28942100
23andMers28942100
23andMe allrs28942100
SNP Nexus

SNPshotrs28942100
SNPdbers28942100
MSV3drs28942100
GWAS Ctlgrs28942100
GMAF0.0004591
Max Magnitude0
OMIM607474
DescALKAPTONURIA
Variant0001
Relatedalso


ClinVar
Risk rs28942100(T;T)
Alt rs28942100(T;T)
Reference rs28942100(C;C)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120363252G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003315.5,