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rs151344522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151344522(A;A)
Make rs151344522(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position12337418
GeneAFG3L2, LOC107985154
is asnp
is mentioned by
dbSNPrs151344522
dbSNP (classic)rs151344522
ClinGenrs151344522
ebirs151344522
HLIrs151344522
Exacrs151344522
Gnomadrs151344522
Varsomers151344522
LitVarrs151344522
Maprs151344522
PheGenIrs151344522
Biobankrs151344522
1000 genomesrs151344522
hgdprs151344522
ensemblrs151344522
geneviewrs151344522
scholarrs151344522
googlers151344522
pharmgkbrs151344522
gwascentralrs151344522
openSNPrs151344522
23andMers151344522
SNPshotrs151344522
SNPdbers151344522
MSV3drs151344522
GWAS Ctlgrs151344522
Max Magnitude0
ClinVar
Risk rs151344522(A;A)
Alt rs151344522(A;A)
Reference Rs151344522(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 28
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar ataxia 28
Reversed 1
HGVS NC_000018.9:g.12337417C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000031947.1,