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rs151344512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs151344512(A;C)
Make rs151344512(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position12353028
GeneAFG3L2
is asnp
is mentioned by
dbSNPrs151344512
dbSNP (classic)rs151344512
ClinGenrs151344512
ebirs151344512
HLIrs151344512
Exacrs151344512
Gnomadrs151344512
Varsomers151344512
LitVarrs151344512
Maprs151344512
PheGenIrs151344512
Biobankrs151344512
1000 genomesrs151344512
hgdprs151344512
ensemblrs151344512
geneviewrs151344512
scholarrs151344512
googlers151344512
pharmgkbrs151344512
gwascentralrs151344512
openSNPrs151344512
23andMers151344512
SNPshotrs151344512
SNPdbers151344512
MSV3drs151344512
GWAS Ctlgrs151344512
Max Magnitude0
ClinVar
Risk rs151344512(C;C)
Alt rs151344512(C;C)
Reference Rs151344512(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia 28
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar ataxia 28
Reversed 1
HGVS NC_000018.9:g.12353027T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005808.3,