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rs137852845

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852845(C;T)
Make rs137852845(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position4376365
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852845
ebirs137852845
HLIrs137852845
Exacrs137852845
Varsomers137852845
Maprs137852845
PheGenIrs137852845
hapmaprs137852845
1000 genomesrs137852845
hgdprs137852845
ensemblrs137852845
gopubmedrs137852845
geneviewrs137852845
scholarrs137852845
googlers137852845
pharmgkbrs137852845
gwascentralrs137852845
openSNPrs137852845
23andMers137852845
23andMe allrs137852845
SNP Nexus

SNPshotrs137852845
SNPdbers137852845
MSV3drs137852845
GWAS Ctlgrs137852845
Max Magnitude0
OMIM607939
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852845(T;T)
Alt rs137852845(T;T)
Reference rs137852845(C;C)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4418049G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002784.4,