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rs151344523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151344523(A;A)
Make rs151344523(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position12337411
GeneAFG3L2
is asnp
is mentioned by
dbSNPrs151344523
ClinGenrs151344523
ebirs151344523
HLIrs151344523
Exacrs151344523
Varsomers151344523
Maprs151344523
PheGenIrs151344523
hapmaprs151344523
1000 genomesrs151344523
hgdprs151344523
ensemblrs151344523
gopubmedrs151344523
geneviewrs151344523
scholarrs151344523
googlers151344523
pharmgkbrs151344523
gwascentralrs151344523
openSNPrs151344523
23andMers151344523
23andMe allrs151344523
SNP Nexus

SNPshotrs151344523
SNPdbers151344523
MSV3drs151344523
GWAS Ctlgrs151344523
Max Magnitude0
ClinVar
Risk rs151344523(A;A)
Alt rs151344523(A;A)
Reference Rs151344523(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 28
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar ataxia 28
Reversed 1
HGVS NC_000018.9:g.12337410C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005807.2,