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rs1057516976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1057516976(-;-)
Make rs1057516976(-;AA)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120650831
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516976
dbSNP (old)rs1057516976
ClinGenrs1057516976
ebirs1057516976
HLIrs1057516976
Exacrs1057516976
Gnomadrs1057516976
Varsomers1057516976
LitVarrs1057516976
Maprs1057516976
PheGenIrs1057516976
Biobankrs1057516976
1000 genomesrs1057516976
hgdprs1057516976
ensemblrs1057516976
gopubmedrs1057516976
geneviewrs1057516976
scholarrs1057516976
googlers1057516976
pharmgkbrs1057516976
gwascentralrs1057516976
openSNPrs1057516976
23andMers1057516976
23andMe allrs1057516976
SNPshotrs1057516976
SNPdbers1057516976
MSV3drs1057516976
GWAS Ctlgrs1057516976
Max Magnitude0
ClinVar
Risk rs1057516976(-;-)
Alt rs1057516976(-;-)
Reference Rs1057516976(AA;AA)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120369678_120369679delTT
CLNSRC
CLNACC RCV000411862.1,