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rs151344521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151344521(A;A)
Make rs151344521(A;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position12337435
GeneAFG3L2, LOC107985154
is asnp
is mentioned by
dbSNPrs151344521
dbSNP (classic)rs151344521
ClinGenrs151344521
ebirs151344521
HLIrs151344521
Exacrs151344521
Gnomadrs151344521
Varsomers151344521
LitVarrs151344521
Maprs151344521
PheGenIrs151344521
Biobankrs151344521
1000 genomesrs151344521
hgdprs151344521
ensemblrs151344521
geneviewrs151344521
scholarrs151344521
googlers151344521
pharmgkbrs151344521
gwascentralrs151344521
openSNPrs151344521
23andMers151344521
SNPshotrs151344521
SNPdbers151344521
MSV3drs151344521
GWAS Ctlgrs151344521
Max Magnitude0
ClinVar
Risk rs151344521(A;A)
Alt rs151344521(A;A)
Reference Rs151344521(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 28
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar ataxia 28
Reversed 1
HGVS NC_000018.9:g.12337434G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005806.3,