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rs786203983

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786203983(G;T)
Make rs786203983(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position49862188
GenePNKP
is asnp
is mentioned by
dbSNPrs786203983
ebirs786203983
HLIrs786203983
Exacrs786203983
Varsomers786203983
Maprs786203983
PheGenIrs786203983
hapmaprs786203983
1000 genomesrs786203983
hgdprs786203983
ensemblrs786203983
gopubmedrs786203983
geneviewrs786203983
scholarrs786203983
googlers786203983
pharmgkbrs786203983
gwascentralrs786203983
openSNPrs786203983
23andMers786203983
23andMe allrs786203983
SNP Nexus

SNPshotrs786203983
SNPdbers786203983
MSV3drs786203983
GWAS Ctlgrs786203983
Max Magnitude0
ClinVar
Risk rs786203983(T;T)
Alt rs786203983(T;T)
Reference rs786203983(G;G)
Significance Pathogenic
Disease Ataxia-oculomotor apraxia 4
Variation info
Gene PNKP
CLNDBN Ataxia-oculomotor apraxia 4
Reversed 1
HGVS NC_000019.9:g.50365445C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167523.3,