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rs267608216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGAGGCCT;GGAGGCCT) 0 common in clinvar
Make rs267608216(-;-)
Make rs267608216(-;GGAGGCCT)
ReferenceGRCh38.p7 38.3/149
Chromosome6
Position42969714
GenePEX6
is asnp
is mentioned by
dbSNPrs267608216
dbSNP (old)rs267608216
ClinGenrs267608216
ebirs267608216
HLIrs267608216
Exacrs267608216
Gnomadrs267608216
Varsomers267608216
Maprs267608216
PheGenIrs267608216
Biobankrs267608216
1000 genomesrs267608216
hgdprs267608216
ensemblrs267608216
gopubmedrs267608216
geneviewrs267608216
scholarrs267608216
googlers267608216
pharmgkbrs267608216
gwascentralrs267608216
openSNPrs267608216
23andMers267608216
23andMe allrs267608216
SNPshotrs267608216
SNPdbers267608216
MSV3drs267608216
GWAS Ctlgrs267608216
Max Magnitude0
ClinVar
Risk rs267608216(-;-)
Alt rs267608216(-;-)
Reference Rs267608216(GGAGGCCT;GGAGGCCT)
Significance Pathogenic
Disease Heimler syndrome 2 Peroxisome biogenesis disorder 4a (zellweger) Peroxisome biogenesis disorder 4B
Variation info
Gene PEX6
CLNDBN Heimler syndrome 2 Peroxisome biogenesis disorder 4a (zellweger) Peroxisome biogenesis disorder 4B
Reversed 1
HGVS NC_000006.11:g.42937452_42937459delAGGCCTCC
CLNSRC
CLNACC RCV000240725.1, RCV000410284.1, RCV000411317.1,