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rs137852854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852854(A;A)
Make rs137852854(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position4418082
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852854
ebirs137852854
HLIrs137852854
Exacrs137852854
Varsomers137852854
Maprs137852854
PheGenIrs137852854
hapmaprs137852854
1000 genomesrs137852854
hgdprs137852854
ensemblrs137852854
gopubmedrs137852854
geneviewrs137852854
scholarrs137852854
googlers137852854
pharmgkbrs137852854
gwascentralrs137852854
openSNPrs137852854
23andMers137852854
23andMe allrs137852854
SNP Nexus

SNPshotrs137852854
SNPdbers137852854
MSV3drs137852854
GWAS Ctlgrs137852854
Max Magnitude0
OMIM607939
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852854(A;A)
Alt rs137852854(A;A)
Reference rs137852854(G;G)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4459766C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002796.3,