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rs727503966

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503966(-;-)
Make rs727503966(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position987814
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs727503966
ebirs727503966
HLIrs727503966
Exacrs727503966
Varsomers727503966
Maprs727503966
PheGenIrs727503966
hapmaprs727503966
1000 genomesrs727503966
hgdprs727503966
ensemblrs727503966
gopubmedrs727503966
geneviewrs727503966
scholarrs727503966
googlers727503966
pharmgkbrs727503966
gwascentralrs727503966
openSNPrs727503966
23andMers727503966
23andMe allrs727503966
SNP Nexus

SNPshotrs727503966
SNPdbers727503966
MSV3drs727503966
GWAS Ctlgrs727503966
Max Magnitude0
ClinVar
Risk rs727503966(;)
Alt rs727503966(;)
Reference rs727503966(C;C)
Significance Pathogenic
Disease not provided Hurler syndrome
Variation info
Gene SLC26A1 IDUA
CLNDBN not provided Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.981602delC
CLNSRC
CLNACC RCV000153375.2, RCV000175549.1,