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rs1057521146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057521146(A;A)
Make rs1057521146(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80217151
GeneSGSH
is asnp
is mentioned by
dbSNPrs1057521146
dbSNP (classic)rs1057521146
ClinGenrs1057521146
ebirs1057521146
HLIrs1057521146
Exacrs1057521146
Gnomadrs1057521146
Varsomers1057521146
LitVarrs1057521146
Maprs1057521146
PheGenIrs1057521146
Biobankrs1057521146
1000 genomesrs1057521146
hgdprs1057521146
ensemblrs1057521146
geneviewrs1057521146
scholarrs1057521146
googlers1057521146
pharmgkbrs1057521146
gwascentralrs1057521146
openSNPrs1057521146
23andMers1057521146
SNPshotrs1057521146
SNPdbers1057521146
MSV3drs1057521146
GWAS Ctlgrs1057521146
Max Magnitude0
ClinVar
Risk rs1057521146(A;A)
Alt rs1057521146(A;A)
Reference Rs1057521146(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene SGSH
CLNDBN not provided
Reversed 1
HGVS NC_000017.10:g.78190950C>T
CLNSRC
CLNACC RCV000439024.1,