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rs863225083

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225083(-;-)
Make rs863225083(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position42967411
GenePEX6
is asnp
is mentioned by
dbSNPrs863225083
dbSNP (classic)rs863225083
ClinGenrs863225083
ebirs863225083
HLIrs863225083
Exacrs863225083
Gnomadrs863225083
Varsomers863225083
LitVarrs863225083
Maprs863225083
PheGenIrs863225083
Biobankrs863225083
1000 genomesrs863225083
hgdprs863225083
ensemblrs863225083
geneviewrs863225083
scholarrs863225083
googlers863225083
pharmgkbrs863225083
gwascentralrs863225083
openSNPrs863225083
23andMers863225083
SNPshotrs863225083
SNPdbers863225083
MSV3drs863225083
GWAS Ctlgrs863225083
Max Magnitude0
ClinVar
Risk rs863225083(-;-)
Alt rs863225083(-;-)
Reference Rs863225083(T;T)
Significance Pathogenic
Disease Heimler syndrome 2
Variation info
Gene PEX6
CLNDBN Heimler syndrome 2
Reversed 1
HGVS NC_000006.11:g.42935149delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000201289.3,