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rs151344518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151344518(A;A)
Make rs151344518(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position12337504
GeneAFG3L2, LOC107985154
is asnp
is mentioned by
dbSNPrs151344518
dbSNP (classic)rs151344518
ClinGenrs151344518
ebirs151344518
HLIrs151344518
Exacrs151344518
Gnomadrs151344518
Varsomers151344518
LitVarrs151344518
Maprs151344518
PheGenIrs151344518
Biobankrs151344518
1000 genomesrs151344518
hgdprs151344518
ensemblrs151344518
geneviewrs151344518
scholarrs151344518
googlers151344518
pharmgkbrs151344518
gwascentralrs151344518
openSNPrs151344518
23andMers151344518
SNPshotrs151344518
SNPdbers151344518
MSV3drs151344518
GWAS Ctlgrs151344518
Max Magnitude0
ClinVar
Risk rs151344518(A;A)
Alt rs151344518(A;A)
Reference Rs151344518(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 28
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar ataxia 28
Reversed 1
HGVS NC_000018.9:g.12337503C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000031946.1,