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rs1085307107

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome3
Position4452983
GeneSUMF1
is asnp
is mentioned by
dbSNPrs1085307107
dbSNP (old)rs1085307107
ClinGenrs1085307107
ebirs1085307107
HLIrs1085307107
Exacrs1085307107
Gnomadrs1085307107
Varsomers1085307107
Maprs1085307107
PheGenIrs1085307107
Biobankrs1085307107
1000 genomesrs1085307107
hgdprs1085307107
ensemblrs1085307107
gopubmedrs1085307107
geneviewrs1085307107
scholarrs1085307107
googlers1085307107
pharmgkbrs1085307107
gwascentralrs1085307107
openSNPrs1085307107
23andMers1085307107
23andMe allrs1085307107
SNPshotrs1085307107
SNPdbers1085307107
MSV3drs1085307107
GWAS Ctlgrs1085307107
Max Magnitude0
ClinVar
Risk rs1085307107(A;A)
Alt rs1085307107(A;A)
Reference Rs1085307107(G;G)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4494667C>T
CLNSRC
CLNACC RCV000490557.1,