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rs1057517081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs1057517081(GAG;TA)
Make rs1057517081(TA;TA)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120633316
GeneHGD
is asnp
is mentioned by
dbSNPrs1057517081
dbSNP (old)rs1057517081
ClinGenrs1057517081
ebirs1057517081
HLIrs1057517081
Exacrs1057517081
Gnomadrs1057517081
Varsomers1057517081
LitVarrs1057517081
Maprs1057517081
PheGenIrs1057517081
Biobankrs1057517081
1000 genomesrs1057517081
hgdprs1057517081
ensemblrs1057517081
gopubmedrs1057517081
geneviewrs1057517081
scholarrs1057517081
googlers1057517081
pharmgkbrs1057517081
gwascentralrs1057517081
openSNPrs1057517081
23andMers1057517081
23andMe allrs1057517081
SNPshotrs1057517081
SNPdbers1057517081
MSV3drs1057517081
GWAS Ctlgrs1057517081
Max Magnitude0
ClinVar
Risk rs1057517081(TA;TA)
Alt rs1057517081(TA;TA)
Reference Rs1057517081(GAG;GAG)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120352163_120352165delCTCinsTA
CLNSRC
CLNACC RCV000410483.1,