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rs61761068

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61761068(C;T)
Make rs61761068(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8887116
GenePIK3R5
is asnp
is mentioned by
dbSNPrs61761068
ebirs61761068
HLIrs61761068
Exacrs61761068
Varsomers61761068
Maprs61761068
PheGenIrs61761068
hapmaprs61761068
1000 genomesrs61761068
hgdprs61761068
ensemblrs61761068
gopubmedrs61761068
geneviewrs61761068
scholarrs61761068
googlers61761068
pharmgkbrs61761068
gwascentralrs61761068
openSNPrs61761068
23andMers61761068
23andMe allrs61761068
SNP Nexus

SNPshotrs61761068
SNPdbers61761068
MSV3drs61761068
GWAS Ctlgrs61761068
GMAF0.00551
Max Magnitude0
ClinVar
Risk rs61761068(T;T)
Alt rs61761068(T;T)
Reference rs61761068(C;C)
Significance Pathogenic
Disease Ataxia-oculomotor apraxia 3
Variation info
Gene PIK3R5
CLNDBN Ataxia-oculomotor apraxia 3
Reversed 1
HGVS NC_000017.10:g.8790433G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000041972.3,