Have questions? Visit https://www.reddit.com/r/SNPedia

rs71454844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs71454844(G;T)
Make rs71454844(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position1844466
GeneCACNA2D4
is asnp
is mentioned by
dbSNPrs71454844
ebirs71454844
HLIrs71454844
Exacrs71454844
Varsomers71454844
Maprs71454844
PheGenIrs71454844
hapmaprs71454844
1000 genomesrs71454844
hgdprs71454844
ensemblrs71454844
gopubmedrs71454844
geneviewrs71454844
scholarrs71454844
googlers71454844
pharmgkbrs71454844
gwascentralrs71454844
openSNPrs71454844
23andMers71454844
23andMe allrs71454844
SNP Nexus

SNPshotrs71454844
SNPdbers71454844
MSV3drs71454844
GWAS Ctlgrs71454844
Max Magnitude0
OMIM608171
Desc
Variant0001
Relatedalso


ClinVar
Risk rs71454844(T;T)
Alt rs71454844(T;T)
Reference rs71454844(G;G)
Significance Pathogenic
Disease Retinal cone dystrophy 4
Variation info
Gene CACNA2D4
CLNDBN Retinal cone dystrophy 4
Reversed 0
HGVS NC_000012.11:g.1953632G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002610.2,