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rs1057516307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516307(C;C)
Make rs1057516307(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120646265
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516307
dbSNP (old)rs1057516307
ClinGenrs1057516307
ebirs1057516307
HLIrs1057516307
Exacrs1057516307
Gnomadrs1057516307
Varsomers1057516307
LitVarrs1057516307
Maprs1057516307
PheGenIrs1057516307
Biobankrs1057516307
1000 genomesrs1057516307
hgdprs1057516307
ensemblrs1057516307
gopubmedrs1057516307
geneviewrs1057516307
scholarrs1057516307
googlers1057516307
pharmgkbrs1057516307
gwascentralrs1057516307
openSNPrs1057516307
23andMers1057516307
23andMe allrs1057516307
SNPshotrs1057516307
SNPdbers1057516307
MSV3drs1057516307
GWAS Ctlgrs1057516307
Max Magnitude0
ClinVar
Risk rs1057516307(C;C)
Alt rs1057516307(C;C)
Reference Rs1057516307(T;T)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120365112A>G
CLNSRC
CLNACC RCV000411569.1,