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rs2819590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2819590(A;A)
Make rs2819590(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position4467058
GeneSUMF1
is asnp
is mentioned by
dbSNPrs2819590
dbSNP (classic)rs2819590
ClinGenrs2819590
ebirs2819590
HLIrs2819590
Exacrs2819590
Gnomadrs2819590
Varsomers2819590
LitVarrs2819590
Maprs2819590
PheGenIrs2819590
Biobankrs2819590
1000 genomesrs2819590
hgdprs2819590
ensemblrs2819590
geneviewrs2819590
scholarrs2819590
googlers2819590
pharmgkbrs2819590
gwascentralrs2819590
openSNPrs2819590
23andMers2819590
23andMe allrs2819590
SNPshotrs2819590
SNPdbers2819590
MSV3drs2819590
GWAS Ctlgrs2819590
GMAF0.1428
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs2819590(A;A)
Alt rs2819590(A;A)
Reference Rs2819590(G;G)
Significance Non-pathogenic
Disease not specified Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN not specified Multiple sulfatase deficiency
Reversed 1
HGVS NC_000003.11:g.4508742C>T
CLNSRC
CLNACC RCV000244602.1, RCV000362882.1,