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rs770241913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770241913(-;-)
Make rs770241913(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position4418074
GeneSUMF1
is asnp
is mentioned by
dbSNPrs770241913
dbSNP (old)rs770241913
ClinGenrs770241913
ebirs770241913
HLIrs770241913
Exacrs770241913
Gnomadrs770241913
Varsomers770241913
Maprs770241913
PheGenIrs770241913
Biobankrs770241913
1000 genomesrs770241913
hgdprs770241913
ensemblrs770241913
gopubmedrs770241913
geneviewrs770241913
scholarrs770241913
googlers770241913
pharmgkbrs770241913
gwascentralrs770241913
openSNPrs770241913
23andMers770241913
23andMe allrs770241913
SNP Nexus

SNPshotrs770241913
SNPdbers770241913
MSV3drs770241913
GWAS Ctlgrs770241913
Max Magnitude0
ClinVar
Risk rs770241913(-;-)
Alt rs770241913(-;-)
Reference Rs770241913(C;C)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 0
HGVS NC_000003.11:g.4459758delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002790.4,