Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852847(A;A)
Make rs137852847(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position4362223
GeneSUMF1
is asnp
is mentioned by
dbSNPrs137852847
ebirs137852847
HLIrs137852847
Exacrs137852847
Varsomers137852847
Maprs137852847
PheGenIrs137852847
hapmaprs137852847
1000 genomesrs137852847
hgdprs137852847
ensemblrs137852847
gopubmedrs137852847
geneviewrs137852847
scholarrs137852847
googlers137852847
pharmgkbrs137852847
gwascentralrs137852847
openSNPrs137852847
23andMers137852847
23andMe allrs137852847
SNP Nexus

SNPshotrs137852847
SNPdbers137852847
MSV3drs137852847
GWAS Ctlgrs137852847
Max Magnitude0
OMIM607939
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852847(A;A)
Alt rs137852847(A;A)
Reference rs137852847(G;G)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4403907C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002786.4,