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rs398123044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123044(C;T)
Make rs398123044(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position13381577
GeneRAB28
is asnp
is mentioned by
dbSNPrs398123044
ebirs398123044
HLIrs398123044
Exacrs398123044
Varsomers398123044
Maprs398123044
PheGenIrs398123044
hapmaprs398123044
1000 genomesrs398123044
hgdprs398123044
ensemblrs398123044
gopubmedrs398123044
geneviewrs398123044
scholarrs398123044
googlers398123044
pharmgkbrs398123044
gwascentralrs398123044
openSNPrs398123044
23andMers398123044
23andMe allrs398123044
SNP Nexus

SNPshotrs398123044
SNPdbers398123044
MSV3drs398123044
GWAS Ctlgrs398123044
Max Magnitude0
ClinVar
Risk rs398123044(G,T;G,T)
Alt rs398123044(G,T;G,T)
Reference rs398123044(C;C)
Significance Pathogenic
Disease Cone-rod dystrophy 18
Variation info
Gene RAB28
CLNDBN Cone-rod dystrophy 18
Reversed 1
HGVS NC_000004.11:g.13383201G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054528.3,