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rs118203947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203947(A;G)
Make rs118203947(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11273886
GeneUBIAD1
is asnp
is mentioned by
dbSNPrs118203947
ebirs118203947
HLIrs118203947
Exacrs118203947
Varsomers118203947
Maprs118203947
PheGenIrs118203947
hapmaprs118203947
1000 genomesrs118203947
hgdprs118203947
ensemblrs118203947
gopubmedrs118203947
geneviewrs118203947
scholarrs118203947
googlers118203947
pharmgkbrs118203947
gwascentralrs118203947
openSNPrs118203947
23andMers118203947
23andMe allrs118203947
SNP Nexus

SNPshotrs118203947
SNPdbers118203947
MSV3drs118203947
GWAS Ctlgrs118203947
Max Magnitude0
OMIM611632
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203947(G;G)
Alt rs118203947(G;G)
Reference rs118203947(A;A)
Significance Pathogenic
Disease Schnyder crystalline corneal dystrophy
Variation info
Gene UBIAD1
CLNDBN Schnyder crystalline corneal dystrophy
Reversed 0
HGVS NC_000001.10:g.11333943A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000906.2,