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rs1057517418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517418(-;T)
Make rs1057517418(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120641686
GeneHGD
is asnp
is mentioned by
dbSNPrs1057517418
dbSNP (old)rs1057517418
ClinGenrs1057517418
ebirs1057517418
HLIrs1057517418
Exacrs1057517418
Gnomadrs1057517418
Varsomers1057517418
LitVarrs1057517418
Maprs1057517418
PheGenIrs1057517418
Biobankrs1057517418
1000 genomesrs1057517418
hgdprs1057517418
ensemblrs1057517418
gopubmedrs1057517418
geneviewrs1057517418
scholarrs1057517418
googlers1057517418
pharmgkbrs1057517418
gwascentralrs1057517418
openSNPrs1057517418
23andMers1057517418
23andMe allrs1057517418
SNPshotrs1057517418
SNPdbers1057517418
MSV3drs1057517418
GWAS Ctlgrs1057517418
Max Magnitude0
ClinVar
Risk rs1057517418(T;T)
Alt rs1057517418(T;T)
Reference Rs1057517418(-;-)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120360534dupA
CLNSRC
CLNACC RCV000411140.1,