rs62636519

Orientation

plus

Stabilized

plus

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

Make rs62636519(-;GTGCGGT)

Make rs62636519(GTGCGGT;GTGCGGT)

Reference

GRCh38 38.1/141

Chromosome

6

Position

136822683

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs62636519
dbSNP (classic)	rs62636519
ClinGen	rs62636519
ebi	rs62636519
HLI	rs62636519
Exac	rs62636519
Gnomad	rs62636519
Varsome	rs62636519
LitVar	rs62636519
Map	rs62636519
PheGenI	rs62636519
Biobank	rs62636519
1000 genomes	rs62636519
hgdp	rs62636519
ensembl	rs62636519
geneview	rs62636519
scholar	rs62636519
google	rs62636519
pharmgkb	rs62636519
gwascentral	rs62636519
openSNP	rs62636519
23andMe	rs62636519
SNPshot	rs62636519
SNPdbe	rs62636519
MSV3d	rs62636519
GWAS Ctlg	rs62636519

Max Magnitude

0

ClinVar
Risk	rs62636519(GTGCGGT;GTGCGGT) rs62636519(TGCGGTG;TGCGGTG)
Alt	rs62636519(GTGCGGT;GTGCGGT) rs62636519(TGCGGTG;TGCGGTG)
Reference	Rs62636519(-;-)
Significance	Other
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.137143816_137143822dupTGCGGTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008232.3, RCV000411594.2,

[PMID 12522768] Identification of PEX7 as the second gene involved in Refsum disease.