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rs137852853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852853(C;C)
Make rs137852853(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position4362227
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852853
ebirs137852853
HLIrs137852853
Exacrs137852853
Varsomers137852853
Maprs137852853
PheGenIrs137852853
hapmaprs137852853
1000 genomesrs137852853
hgdprs137852853
ensemblrs137852853
gopubmedrs137852853
geneviewrs137852853
scholarrs137852853
googlers137852853
pharmgkbrs137852853
gwascentralrs137852853
openSNPrs137852853
23andMers137852853
23andMe allrs137852853
SNP Nexus

SNPshotrs137852853
SNPdbers137852853
MSV3drs137852853
GWAS Ctlgrs137852853
Max Magnitude0
OMIM607939
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137852853(C;C)
Alt rs137852853(C;C)
Reference rs137852853(G;G)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4403911C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002795.3,