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rs137852846

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852846(C;T)
Make rs137852846(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position4362224
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852846
ebirs137852846
HLIrs137852846
Exacrs137852846
Varsomers137852846
Maprs137852846
PheGenIrs137852846
hapmaprs137852846
1000 genomesrs137852846
hgdprs137852846
ensemblrs137852846
gopubmedrs137852846
geneviewrs137852846
scholarrs137852846
googlers137852846
pharmgkbrs137852846
gwascentralrs137852846
openSNPrs137852846
23andMers137852846
23andMe allrs137852846
SNP Nexus

SNPshotrs137852846
SNPdbers137852846
MSV3drs137852846
GWAS Ctlgrs137852846
Max Magnitude0
OMIM607939
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852846(T;T)
Alt rs137852846(T;T)
Reference rs137852846(C;C)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4403908G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002785.3,