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rs764254189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs764254189(C;C)
Make rs764254189(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position12340230
GeneAFG3L2, LOC107985154
is asnp
is mentioned by
dbSNPrs764254189
dbSNP (classic)rs764254189
ClinGenrs764254189
ebirs764254189
HLIrs764254189
Exacrs764254189
Gnomadrs764254189
Varsomers764254189
LitVarrs764254189
Maprs764254189
PheGenIrs764254189
Biobankrs764254189
1000 genomesrs764254189
hgdprs764254189
ensemblrs764254189
geneviewrs764254189
scholarrs764254189
googlers764254189
pharmgkbrs764254189
gwascentralrs764254189
openSNPrs764254189
23andMers764254189
23andMe allrs764254189
SNPshotrs764254189
SNPdbers764254189
MSV3drs764254189
GWAS Ctlgrs764254189
Max Magnitude0
ClinVar
Risk rs764254189(C;C) rs764254189(G;G)
Alt rs764254189(C;C) rs764254189(G;G)
Reference Rs764254189(T;T)
Significance Probable-Pathogenic
Disease Spastic ataxia 5
Variation info
Gene AFG3L2
CLNDBN Spastic ataxia 5, autosomal recessive
Reversed 0
HGVS NC_000018.9:g.12340229T>C
CLNSRC
CLNACC RCV000415684.1,