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rs151344515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs151344515(G;G)
Make rs151344515(G;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position12337519
GeneAFG3L2
is asnp
is mentioned by
dbSNPrs151344515
ebirs151344515
HLIrs151344515
Exacrs151344515
Varsomers151344515
Maprs151344515
PheGenIrs151344515
hapmaprs151344515
1000 genomesrs151344515
hgdprs151344515
ensemblrs151344515
gopubmedrs151344515
geneviewrs151344515
scholarrs151344515
googlers151344515
pharmgkbrs151344515
gwascentralrs151344515
openSNPrs151344515
23andMers151344515
23andMe allrs151344515
SNP Nexus

SNPshotrs151344515
SNPdbers151344515
MSV3drs151344515
GWAS Ctlgrs151344515
Max Magnitude0
ClinVar
Risk rs151344515(C,G;C,G)
Alt rs151344515(C,G;C,G)
Reference rs151344515(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 28
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar ataxia 28
Reversed 1
HGVS NC_000018.9:g.12337518A>C; NC_000018.9:g.12337518A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023377.2, RCV000031943.1,