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rs775324176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTAC;TTAC) 0 common in clinvar
Make rs775324176(-;-)
Make rs775324176(-;TTAC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position4449258
GeneSUMF1
is asnp
is mentioned by
dbSNPrs775324176
dbSNP (old)rs775324176
ClinGenrs775324176
ebirs775324176
HLIrs775324176
Exacrs775324176
Gnomadrs775324176
Varsomers775324176
Maprs775324176
PheGenIrs775324176
Biobankrs775324176
1000 genomesrs775324176
hgdprs775324176
ensemblrs775324176
gopubmedrs775324176
geneviewrs775324176
scholarrs775324176
googlers775324176
pharmgkbrs775324176
gwascentralrs775324176
openSNPrs775324176
23andMers775324176
23andMe allrs775324176
SNP Nexus

SNPshotrs775324176
SNPdbers775324176
MSV3drs775324176
GWAS Ctlgrs775324176
Max Magnitude0
ClinVar
Risk rs775324176(-;-)
Alt rs775324176(-;-)
Reference Rs775324176(TTAC;TTAC)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 0
HGVS NC_000003.11:g.4490942_4490945delTTAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002782.4,