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rs137852851

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852851(G;G)
Make rs137852851(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position4467244
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852851
ebirs137852851
HLIrs137852851
Exacrs137852851
Varsomers137852851
Maprs137852851
PheGenIrs137852851
hapmaprs137852851
1000 genomesrs137852851
hgdprs137852851
ensemblrs137852851
gopubmedrs137852851
geneviewrs137852851
scholarrs137852851
googlers137852851
pharmgkbrs137852851
gwascentralrs137852851
openSNPrs137852851
23andMers137852851
23andMe allrs137852851
SNP Nexus

SNPshotrs137852851
SNPdbers137852851
MSV3drs137852851
GWAS Ctlgrs137852851
Max Magnitude0
OMIM607939
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137852851(G;G)
Alt rs137852851(G;G)
Reference rs137852851(T;T)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4508928A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002792.3,