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rs1057516362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs1057516362(ATT;ATT)
Make rs1057516362(ATT;GG)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120675847
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516362
dbSNP (classic)rs1057516362
ClinGenrs1057516362
ebirs1057516362
HLIrs1057516362
Exacrs1057516362
Gnomadrs1057516362
Varsomers1057516362
LitVarrs1057516362
Maprs1057516362
PheGenIrs1057516362
Biobankrs1057516362
1000 genomesrs1057516362
hgdprs1057516362
ensemblrs1057516362
geneviewrs1057516362
scholarrs1057516362
googlers1057516362
pharmgkbrs1057516362
gwascentralrs1057516362
openSNPrs1057516362
23andMers1057516362
23andMe allrs1057516362
SNPshotrs1057516362
SNPdbers1057516362
MSV3drs1057516362
GWAS Ctlgrs1057516362
Max Magnitude0
ClinVar
Risk rs1057516362(ATT;ATT)
Alt rs1057516362(ATT;ATT)
Reference Rs1057516362(GG;GG)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120394694_120394695delCCinsAAT
CLNSRC
CLNACC RCV000410442.1,