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rs151344517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151344517(A;A)
Make rs151344517(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position12337505
GeneAFG3L2
is asnp
is mentioned by
dbSNPrs151344517
ebirs151344517
HLIrs151344517
Exacrs151344517
Varsomers151344517
Maprs151344517
PheGenIrs151344517
hapmaprs151344517
1000 genomesrs151344517
hgdprs151344517
ensemblrs151344517
gopubmedrs151344517
geneviewrs151344517
scholarrs151344517
googlers151344517
pharmgkbrs151344517
gwascentralrs151344517
openSNPrs151344517
23andMers151344517
23andMe allrs151344517
SNP Nexus

SNPshotrs151344517
SNPdbers151344517
MSV3drs151344517
GWAS Ctlgrs151344517
Max Magnitude0
ClinVar
Risk rs151344517(A;A)
Alt rs151344517(A;A)
Reference rs151344517(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 28
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar ataxia 28
Reversed 1
HGVS NC_000018.9:g.12337504C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023378.2,