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rs137852852

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852852(C;T)
Make rs137852852(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position4362236
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852852
ebirs137852852
HLIrs137852852
Exacrs137852852
Varsomers137852852
Maprs137852852
PheGenIrs137852852
hapmaprs137852852
1000 genomesrs137852852
hgdprs137852852
ensemblrs137852852
gopubmedrs137852852
geneviewrs137852852
scholarrs137852852
googlers137852852
pharmgkbrs137852852
gwascentralrs137852852
openSNPrs137852852
23andMers137852852
23andMe allrs137852852
SNP Nexus

SNPshotrs137852852
SNPdbers137852852
MSV3drs137852852
GWAS Ctlgrs137852852
Max Magnitude0
OMIM607939
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852852(T;T)
Alt rs137852852(T;T)
Reference rs137852852(C;C)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4403920G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002794.4,