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rs1057516662

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGTGT;GAGTGT) 0 common in clinvar
Make rs1057516662(-;-)
Make rs1057516662(-;GAGTGT)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120652590
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516662
dbSNP (old)rs1057516662
ClinGenrs1057516662
ebirs1057516662
HLIrs1057516662
Exacrs1057516662
Gnomadrs1057516662
Varsomers1057516662
Maprs1057516662
PheGenIrs1057516662
Biobankrs1057516662
1000 genomesrs1057516662
hgdprs1057516662
ensemblrs1057516662
gopubmedrs1057516662
geneviewrs1057516662
scholarrs1057516662
googlers1057516662
pharmgkbrs1057516662
gwascentralrs1057516662
openSNPrs1057516662
23andMers1057516662
23andMe allrs1057516662
SNPshotrs1057516662
SNPdbers1057516662
MSV3drs1057516662
GWAS Ctlgrs1057516662
Max Magnitude0
ClinVar
Risk rs1057516662(-;-)
Alt rs1057516662(-;-)
Reference Rs1057516662(GAGTGT;GAGTGT)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120371437_120371442delACACTC
CLNSRC
CLNACC RCV000412288.1,