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rs1057517927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517927(A;G)
Make rs1057517927(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80214767
GeneSGSH
is asnp
is mentioned by
dbSNPrs1057517927
dbSNP (old)rs1057517927
ClinGenrs1057517927
ebirs1057517927
HLIrs1057517927
Exacrs1057517927
Gnomadrs1057517927
Varsomers1057517927
LitVarrs1057517927
Maprs1057517927
PheGenIrs1057517927
Biobankrs1057517927
1000 genomesrs1057517927
hgdprs1057517927
ensemblrs1057517927
gopubmedrs1057517927
geneviewrs1057517927
scholarrs1057517927
googlers1057517927
pharmgkbrs1057517927
gwascentralrs1057517927
openSNPrs1057517927
23andMers1057517927
23andMe allrs1057517927
SNPshotrs1057517927
SNPdbers1057517927
MSV3drs1057517927
GWAS Ctlgrs1057517927
Max Magnitude0
ClinVar
Risk rs1057517927(G;G)
Alt rs1057517927(G;G)
Reference Rs1057517927(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene SGSH
CLNDBN not provided
Reversed 1
HGVS NC_000017.10:g.78188566T>C
CLNSRC
CLNACC RCV000412969.1,