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rs786200915

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786200915(-;-)
Make rs786200915(-;TGCTC)
Make rs786200915(TGCTC;TGCTC)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position1001706
GeneIDUA
is asnp
is mentioned by
dbSNPrs786200915
ebirs786200915
HLIrs786200915
Exacrs786200915
Varsomers786200915
Maprs786200915
PheGenIrs786200915
hapmaprs786200915
1000 genomesrs786200915
hgdprs786200915
ensemblrs786200915
gopubmedrs786200915
geneviewrs786200915
scholarrs786200915
googlers786200915
pharmgkbrs786200915
gwascentralrs786200915
openSNPrs786200915
23andMers786200915
23andMe allrs786200915
SNP Nexus

SNPshotrs786200915
SNPdbers786200915
MSV3drs786200915
GWAS Ctlgrs786200915
Max Magnitude0
ClinVar
Risk rs786200915(CTGCT;CTGCT)
Alt rs786200915(CTGCT;CTGCT)
Reference rs786200915(;)
Significance Pathogenic
Disease Hurler syndrome Mucopolysaccharidosis type 1
Variation info
Gene IDUA
CLNDBN Hurler syndrome Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.995490_995494dupTGCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012696.24, RCV000208610.1,