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rs387906976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906976(G;T)
Make rs387906976(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position4417180
GeneSUMF1
is asnp
is mentioned by
dbSNPrs387906976
ebirs387906976
HLIrs387906976
Exacrs387906976
Varsomers387906976
Maprs387906976
PheGenIrs387906976
hapmaprs387906976
1000 genomesrs387906976
hgdprs387906976
ensemblrs387906976
gopubmedrs387906976
geneviewrs387906976
scholarrs387906976
googlers387906976
pharmgkbrs387906976
gwascentralrs387906976
openSNPrs387906976
23andMers387906976
23andMe allrs387906976
SNP Nexus

SNPshotrs387906976
SNPdbers387906976
MSV3drs387906976
GWAS Ctlgrs387906976
Max Magnitude0
ClinVar
Risk rs387906976(T;T)
Alt rs387906976(T;T)
Reference rs387906976(G;G)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4458864C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023667.3,