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rs118203946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203946(C;C)
Make rs118203946(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11274060
GeneUBIAD1
is asnp
is mentioned by
dbSNPrs118203946
ebirs118203946
HLIrs118203946
Exacrs118203946
Varsomers118203946
Maprs118203946
PheGenIrs118203946
hapmaprs118203946
1000 genomesrs118203946
hgdprs118203946
ensemblrs118203946
gopubmedrs118203946
geneviewrs118203946
scholarrs118203946
googlers118203946
pharmgkbrs118203946
gwascentralrs118203946
openSNPrs118203946
23andMers118203946
23andMe allrs118203946
SNP Nexus

SNPshotrs118203946
SNPdbers118203946
MSV3drs118203946
GWAS Ctlgrs118203946
Max Magnitude0
OMIM611632
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203946(C;C)
Alt rs118203946(C;C)
Reference rs118203946(G;G)
Significance Pathogenic
Disease Schnyder crystalline corneal dystrophy
Variation info
Gene UBIAD1
CLNDBN Schnyder crystalline corneal dystrophy
Reversed 0
HGVS NC_000001.10:g.11334117G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000905.2,