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rs137852844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852844(A;A)
Make rs137852844(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position4362193
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852844
ebirs137852844
HLIrs137852844
Exacrs137852844
Varsomers137852844
Maprs137852844
PheGenIrs137852844
hapmaprs137852844
1000 genomesrs137852844
hgdprs137852844
ensemblrs137852844
gopubmedrs137852844
geneviewrs137852844
scholarrs137852844
googlers137852844
pharmgkbrs137852844
gwascentralrs137852844
openSNPrs137852844
23andMers137852844
23andMe allrs137852844
SNP Nexus

SNPshotrs137852844
SNPdbers137852844
MSV3drs137852844
GWAS Ctlgrs137852844
Max Magnitude0
OMIM607939
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852844(A,T;A,T)
Alt rs137852844(A,T;A,T)
Reference rs137852844(C;C)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4403877G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002783.4,