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rs139024319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139024319(A;A)
Make rs139024319(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position991150
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs139024319
dbSNP (classic)rs139024319
ClinGenrs139024319
ebirs139024319
HLIrs139024319
Exacrs139024319
Gnomadrs139024319
Varsomers139024319
LitVarrs139024319
Maprs139024319
PheGenIrs139024319
Biobankrs139024319
1000 genomesrs139024319
hgdprs139024319
ensemblrs139024319
geneviewrs139024319
scholarrs139024319
googlers139024319
pharmgkbrs139024319
gwascentralrs139024319
openSNPrs139024319
23andMers139024319
SNPshotrs139024319
SNPdbers139024319
MSV3drs139024319
GWAS Ctlgrs139024319
Max Magnitude0
ClinVar
Risk rs139024319(A;A)
Alt rs139024319(A;A)
Reference Rs139024319(G;G)
Significance Pathogenic
Disease Calcium oxalate urolithiasis
Variation info
Gene SLC26A1 IDUA
CLNDBN Calcium oxalate urolithiasis
Reversed 0
HGVS NC_000004.11:g.984938G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000234843.2,