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rs727502823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502823(A;A)
Make rs727502823(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position12340306
GeneAFG3L2, LOC107985154
is asnp
is mentioned by
dbSNPrs727502823
dbSNP (old)rs727502823
ClinGenrs727502823
ebirs727502823
HLIrs727502823
Exacrs727502823
Gnomadrs727502823
Varsomers727502823
Maprs727502823
PheGenIrs727502823
Biobankrs727502823
1000 genomesrs727502823
hgdprs727502823
ensemblrs727502823
gopubmedrs727502823
geneviewrs727502823
scholarrs727502823
googlers727502823
pharmgkbrs727502823
gwascentralrs727502823
openSNPrs727502823
23andMers727502823
23andMe allrs727502823
SNP Nexus

SNPshotrs727502823
SNPdbers727502823
MSV3drs727502823
GWAS Ctlgrs727502823
Max Magnitude0
ClinVar
Risk rs727502823(A;A)
Alt rs727502823(A;A)
Reference Rs727502823(G;G)
Significance Pathogenic
Disease Spastic ataxia 5
Variation info
Gene AFG3L2
CLNDBN Spastic ataxia 5, autosomal recessive
Reversed 1
HGVS NC_000018.9:g.12340305C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149914.4,