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rs118203888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203888(A;A)
Make rs118203888(A;C)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position12258
GeneDDX58
is asnp
is mentioned by
dbSNPrs118203888
ebirs118203888
HLIrs118203888
Exacrs118203888
Varsomers118203888
Maprs118203888
PheGenIrs118203888
hapmaprs118203888
1000 genomesrs118203888
hgdprs118203888
ensemblrs118203888
gopubmedrs118203888
geneviewrs118203888
scholarrs118203888
googlers118203888
pharmgkbrs118203888
gwascentralrs118203888
openSNPrs118203888
23andMers118203888
23andMe allrs118203888
SNP Nexus

SNPshotrs118203888
SNPdbers118203888
MSV3drs118203888
GWAS Ctlgrs118203888
Max Magnitude0
ClinVar
Risk rs118203888(A;A)
Alt rs118203888(A;A)
Reference rs118203888(C;C)
Significance Pathogenic
Disease Cerebellar ataxia Retinitis pigmentosa-deafness syndrome
Variation info
Gene
CLNDBN Cerebellar ataxia, cataract, and diabetes mellitus Retinitis pigmentosa-deafness syndrome
Reversed 0
HGVS NC_012920.1:m.12258C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010170.2, RCV000010171.4,