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rs151344514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs151344514(A;G)
Make rs151344514(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position12337520
GeneAFG3L2
is asnp
is mentioned by
dbSNPrs151344514
ebirs151344514
HLIrs151344514
Exacrs151344514
Varsomers151344514
Maprs151344514
PheGenIrs151344514
hapmaprs151344514
1000 genomesrs151344514
hgdprs151344514
ensemblrs151344514
gopubmedrs151344514
geneviewrs151344514
scholarrs151344514
googlers151344514
pharmgkbrs151344514
gwascentralrs151344514
openSNPrs151344514
23andMers151344514
23andMe allrs151344514
SNP Nexus

SNPshotrs151344514
SNPdbers151344514
MSV3drs151344514
GWAS Ctlgrs151344514
Max Magnitude0
ClinVar
Risk rs151344514(G,T;G,T)
Alt rs151344514(G,T;G,T)
Reference rs151344514(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia 28
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar ataxia 28
Reversed 1
HGVS NC_000018.9:g.12337519T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023376.2,