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rs1085307085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome6
Position136825266
GenePEX7
is asnp
is mentioned by
dbSNPrs1085307085
dbSNP (old)rs1085307085
ClinGenrs1085307085
ebirs1085307085
HLIrs1085307085
Exacrs1085307085
Gnomadrs1085307085
Varsomers1085307085
Maprs1085307085
PheGenIrs1085307085
Biobankrs1085307085
1000 genomesrs1085307085
hgdprs1085307085
ensemblrs1085307085
gopubmedrs1085307085
geneviewrs1085307085
scholarrs1085307085
googlers1085307085
pharmgkbrs1085307085
gwascentralrs1085307085
openSNPrs1085307085
23andMers1085307085
23andMe allrs1085307085
SNPshotrs1085307085
SNPdbers1085307085
MSV3drs1085307085
GWAS Ctlgrs1085307085
Max Magnitude0
ClinVar
Risk rs1085307085(-;-)
Alt rs1085307085(-;-)
Reference Rs1085307085(T;T)
Significance Probable-Pathogenic
Disease Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1
Variation info
Gene PEX7
CLNDBN Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1
Reversed 0
HGVS NC_000006.11:g.137146404delT
CLNSRC
CLNACC RCV000490306.1,