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rs34324426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34324426(C;T)
Make rs34324426(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position42967450
GenePEX6
is asnp
is mentioned by
dbSNPrs34324426
dbSNP (classic)rs34324426
ClinGenrs34324426
ebirs34324426
HLIrs34324426
Exacrs34324426
Gnomadrs34324426
Varsomers34324426
LitVarrs34324426
Maprs34324426
PheGenIrs34324426
Biobankrs34324426
1000 genomesrs34324426
hgdprs34324426
ensemblrs34324426
geneviewrs34324426
scholarrs34324426
googlers34324426
pharmgkbrs34324426
gwascentralrs34324426
openSNPrs34324426
23andMers34324426
SNPshotrs34324426
SNPdbers34324426
MSV3drs34324426
GWAS Ctlgrs34324426
Max Magnitude0
ClinVar
Risk rs34324426(T;T)
Alt rs34324426(T;T)
Reference Rs34324426(C;C)
Significance Pathogenic
Disease not specified Heimler syndrome 2 not provided
Variation info
Gene PEX6
CLNDBN not specified Heimler syndrome 2 not provided
Reversed 0
HGVS NC_000006.11:g.42935188C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000180127.1, RCV000201298.3, RCV000424129.1,