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rs137852850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852850(C;C)
Make rs137852850(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position4449322
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852850
ebirs137852850
HLIrs137852850
Exacrs137852850
Varsomers137852850
Maprs137852850
PheGenIrs137852850
hapmaprs137852850
1000 genomesrs137852850
hgdprs137852850
ensemblrs137852850
gopubmedrs137852850
geneviewrs137852850
scholarrs137852850
googlers137852850
pharmgkbrs137852850
gwascentralrs137852850
openSNPrs137852850
23andMers137852850
23andMe allrs137852850
SNP Nexus

SNPshotrs137852850
SNPdbers137852850
MSV3drs137852850
GWAS Ctlgrs137852850
Max Magnitude0
OMIM607939
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852850(C;C)
Alt rs137852850(C;C)
Reference rs137852850(T;T)
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.4491006A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002791.3, RCV000082715.4,