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rs137852848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852848(C;C)
Make rs137852848(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position4376338
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852848
ebirs137852848
HLIrs137852848
Exacrs137852848
Varsomers137852848
Maprs137852848
PheGenIrs137852848
hapmaprs137852848
1000 genomesrs137852848
hgdprs137852848
ensemblrs137852848
gopubmedrs137852848
geneviewrs137852848
scholarrs137852848
googlers137852848
pharmgkbrs137852848
gwascentralrs137852848
openSNPrs137852848
23andMers137852848
23andMe allrs137852848
SNP Nexus

SNPshotrs137852848
SNPdbers137852848
MSV3drs137852848
GWAS Ctlgrs137852848
Max Magnitude0
OMIM607939
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852848(C;C)
Alt rs137852848(C;C)
Reference rs137852848(T;T)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4418022A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002787.4,