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rs118203948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203948(C;T)
Make rs118203948(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11274055
GeneUBIAD1
is asnp
is mentioned by
dbSNPrs118203948
ebirs118203948
HLIrs118203948
Exacrs118203948
Varsomers118203948
Maprs118203948
PheGenIrs118203948
hapmaprs118203948
1000 genomesrs118203948
hgdprs118203948
ensemblrs118203948
gopubmedrs118203948
geneviewrs118203948
scholarrs118203948
googlers118203948
pharmgkbrs118203948
gwascentralrs118203948
openSNPrs118203948
23andMers118203948
23andMe allrs118203948
SNP Nexus

SNPshotrs118203948
SNPdbers118203948
MSV3drs118203948
GWAS Ctlgrs118203948
Max Magnitude0
OMIM611632
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203948(T;T)
Alt rs118203948(T;T)
Reference rs118203948(C;C)
Significance Pathogenic
Disease Schnyder crystalline corneal dystrophy
Variation info
Gene UBIAD1
CLNDBN Schnyder crystalline corneal dystrophy
Reversed 0
HGVS NC_000001.10:g.11334112C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000907.2,