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rs786205207

From SNPedia

Orientationminus
Geno Mag Summary
(CAC;CAC) 0 common in clinvar
Make rs786205207(-;-)
Make rs786205207(-;CAC)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position49861847
GenePNKP
is asnp
is mentioned by
dbSNPrs786205207
ebirs786205207
HLIrs786205207
Exacrs786205207
Varsomers786205207
Maprs786205207
PheGenIrs786205207
hapmaprs786205207
1000 genomesrs786205207
hgdprs786205207
ensemblrs786205207
gopubmedrs786205207
geneviewrs786205207
scholarrs786205207
googlers786205207
pharmgkbrs786205207
gwascentralrs786205207
openSNPrs786205207
23andMers786205207
23andMe allrs786205207
SNP Nexus

SNPshotrs786205207
SNPdbers786205207
MSV3drs786205207
GWAS Ctlgrs786205207
Max Magnitude0
ClinVar
Risk rs786205207(;)
Alt rs786205207(;)
Reference rs786205207(CAC;CAC)
Significance Pathogenic
Disease Ataxia-oculomotor apraxia 4
Variation info
Gene PNKP
CLNDBN Ataxia-oculomotor apraxia 4
Reversed 1
HGVS NC_000019.9:g.50365104_50365106delGTG
CLNSRC
CLNACC RCV000170438.1,