rs267608252

plus

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

Make rs267608252(C;T)

Make rs267608252(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

136822621

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs267608252
dbSNP (classic)	rs267608252
ClinGen	rs267608252
ebi	rs267608252
HLI	rs267608252
Exac	rs267608252
Gnomad	rs267608252
Varsome	rs267608252
LitVar	rs267608252
Map	rs267608252
PheGenI	rs267608252
Biobank	rs267608252
1000 genomes	rs267608252
hgdp	rs267608252
ensembl	rs267608252
geneview	rs267608252
scholar	rs267608252
google	rs267608252
pharmgkb	rs267608252
gwascentral	rs267608252
openSNP	rs267608252
23andMe	rs267608252
SNPshot	rs267608252
SNPdbe	rs267608252
MSV3d	rs267608252
GWAS Ctlg	rs267608252

Max Magnitude

0

[PMID 27569544 ] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

Also: Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

ClinVar
Risk	rs267608252(T;T)
Alt	rs267608252(T;T)
Reference	Rs267608252(C;C)
Significance	Pathogenic
Disease	Phytanic acid storage disease
Variation	info
Gene	PEX7
CLNDBN	Phytanic acid storage disease
Reversed	0
HGVS	NC_000006.11:g.137143759C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032114.1,