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rs1057517363

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517363(C;C)
Make rs1057517363(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position4417229
GeneSUMF1
is asnp
is mentioned by
dbSNPrs1057517363
dbSNP (old)rs1057517363
ClinGenrs1057517363
ebirs1057517363
HLIrs1057517363
Exacrs1057517363
Gnomadrs1057517363
Varsomers1057517363
Maprs1057517363
PheGenIrs1057517363
Biobankrs1057517363
1000 genomesrs1057517363
hgdprs1057517363
ensemblrs1057517363
gopubmedrs1057517363
geneviewrs1057517363
scholarrs1057517363
googlers1057517363
pharmgkbrs1057517363
gwascentralrs1057517363
openSNPrs1057517363
23andMers1057517363
23andMe allrs1057517363
SNPshotrs1057517363
SNPdbers1057517363
MSV3drs1057517363
GWAS Ctlgrs1057517363
Max Magnitude0
ClinVar
Risk rs1057517363(C;C)
Alt rs1057517363(C;C)
Reference Rs1057517363(G;G)
Significance Probable-Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4458913C>G
CLNSRC
CLNACC RCV000412333.1,