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rs2819590

From SNPedia

Orientationminus
Stabilizedplus
Make rs2819590(A;A)
Make rs2819590(A;G)
Make rs2819590(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position4467058
GeneSUMF1
is asnp
is mentioned by
dbSNPrs2819590
ebirs2819590
HLIrs2819590
Exacrs2819590
Varsomers2819590
Maprs2819590
PheGenIrs2819590
hapmaprs2819590
1000 genomesrs2819590
hgdprs2819590
ensemblrs2819590
gopubmedrs2819590
geneviewrs2819590
scholarrs2819590
googlers2819590
pharmgkbrs2819590
gwascentralrs2819590
openSNPrs2819590
23andMers2819590
23andMe allrs2819590
SNP Nexus

SNPshotrs2819590
SNPdbers2819590
MSV3drs2819590
GWAS Ctlgrs2819590
GMAF0.1428
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene SUMF1
allele T
frequency 0.307
sift TOLERATED
HuRef 1103656011125
Disease Association Defects in SUMF1 are the cause of multiple sulfatase deficiency (MSD) (MIM:272200). MSD is a clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Inheritance is autosomal recessive.



GET Evidence
SUMF1-S63N
aa_change Ser63Asn
aa_change_short S63N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.19161
summary