rs199470486

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs199470486(-;GGGACGCC)

Make rs199470486(GGGACGCC;GGGACGCC)

Reference

GRCh38 38.1/141

Chromosome

6

Position

136822717

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs199470486
dbSNP (classic)	rs199470486
ClinGen	rs199470486
ebi	rs199470486
HLI	rs199470486
Exac	rs199470486
Gnomad	rs199470486
Varsome	rs199470486
LitVar	rs199470486
Map	rs199470486
PheGenI	rs199470486
Biobank	rs199470486
1000 genomes	rs199470486
hgdp	rs199470486
ensembl	rs199470486
geneview	rs199470486
scholar	rs199470486
google	rs199470486
pharmgkb	rs199470486
gwascentral	rs199470486
openSNP	rs199470486
23andMe	rs199470486
SNPshot	rs199470486
SNPdbe	rs199470486
MSV3d	rs199470486
GWAS Ctlg	rs199470486

Max Magnitude

0

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,