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rs199470486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199470486(-;-)
Make rs199470486(-;GGGACGCC)
Make rs199470486(GGGACGCC;GGGACGCC)
ReferenceGRCh38 38.1/141
Chromosome6
Position136822717
GenePEX7
is asnp
is mentioned by
dbSNPrs199470486
ebirs199470486
HLIrs199470486
Exacrs199470486
Varsomers199470486
Maprs199470486
PheGenIrs199470486
hapmaprs199470486
1000 genomesrs199470486
hgdprs199470486
ensemblrs199470486
gopubmedrs199470486
geneviewrs199470486
scholarrs199470486
googlers199470486
pharmgkbrs199470486
gwascentralrs199470486
openSNPrs199470486
23andMers199470486
23andMe allrs199470486
SNP Nexus

SNPshotrs199470486
SNPdbers199470486
MSV3drs199470486
GWAS Ctlgrs199470486
Max Magnitude0
ClinVar
Risk rs199470486(GGACGCCG;GGACGCCG)
Alt rs199470486(GGACGCCG;GGACGCCG)
Reference rs199470486(;)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B
Variation info
Gene PEX7
CLNDBN Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B
Reversed 0
HGVS NC_000006.11:g.137143848_137143855dupGGGACGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008226.1, RCV000032589.3,