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rs151344519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs151344519(CC;TA)
Make rs151344519(TA;TA)
ReferenceGRCh38 38.1/141
Chromosome18
Position12337494
GeneAFG3L2
is asnp
is mentioned by
dbSNPrs151344519
ebirs151344519
HLIrs151344519
Exacrs151344519
Varsomers151344519
Maprs151344519
PheGenIrs151344519
hapmaprs151344519
1000 genomesrs151344519
hgdprs151344519
ensemblrs151344519
gopubmedrs151344519
geneviewrs151344519
scholarrs151344519
googlers151344519
pharmgkbrs151344519
gwascentralrs151344519
openSNPrs151344519
23andMers151344519
23andMe allrs151344519
SNP Nexus

SNPshotrs151344519
SNPdbers151344519
MSV3drs151344519
GWAS Ctlgrs151344519
Max Magnitude0
OMIM604581
Desc
Variant0002
Relatedalso
ClinVar
Risk rs151344519(TA;TA)
Alt rs151344519(TA;TA)
Reference rs151344519(CC;CC)
Significance Pathogenic
Disease Spinocerebellar ataxia 28
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar ataxia 28
Reversed 1
HGVS NC_000018.9:g.12337493_12337494delGGinsTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005805.2,