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rs137852849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852849(C;T)
Make rs137852849(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position4417132
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852849
ebirs137852849
HLIrs137852849
Exacrs137852849
Varsomers137852849
Maprs137852849
PheGenIrs137852849
hapmaprs137852849
1000 genomesrs137852849
hgdprs137852849
ensemblrs137852849
gopubmedrs137852849
geneviewrs137852849
scholarrs137852849
googlers137852849
pharmgkbrs137852849
gwascentralrs137852849
openSNPrs137852849
23andMers137852849
23andMe allrs137852849
SNP Nexus

SNPshotrs137852849
SNPdbers137852849
MSV3drs137852849
GWAS Ctlgrs137852849
GMAF0.0
Max Magnitude0
OMIM607939
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852849(T;T)
Alt rs137852849(T;T)
Reference rs137852849(C;C)
Significance Pathogenic
Disease Multiple sulfatase deficiency not provided
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency not provided
Reversed 1
HGVS NC_000003.11:g.4458816G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002788.4, RCV000082716.4,