rs28936697

Orientation

minus

Stabilized

minus

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

Make rs28936697(C;T)

Make rs28936697(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

35575903

Gene

PEX12

is a	snp
is	mentioned by
dbSNP	rs28936697
dbSNP (classic)	rs28936697
ClinGen	rs28936697
ebi	rs28936697
HLI	rs28936697
Exac	rs28936697
Gnomad	rs28936697
Varsome	rs28936697
LitVar	rs28936697
Map	rs28936697
PheGenI	rs28936697
Biobank	rs28936697
1000 genomes	rs28936697
hgdp	rs28936697
ensembl	rs28936697
geneview	rs28936697
scholar	rs28936697
google	rs28936697
pharmgkb	rs28936697
gwascentral	rs28936697
openSNP	rs28936697
23andMe	rs28936697
SNPshot	rs28936697
SNPdbe	rs28936697
MSV3d	rs28936697
GWAS Ctlg	rs28936697

Max Magnitude

0

OMIM	601758
Desc	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3
Variant	0006
Related	also

ClinVar
Risk	rs28936697(T;T)
Alt	rs28936697(T;T)
Reference	Rs28936697(C;C)
Significance	Pathogenic
Disease	Peroxisomal biogenesis disorder 3b not provided
Variation	info
Gene	PEX12
CLNDBN	Peroxisomal biogenesis disorder 3b not provided
Reversed	1
HGVS	NC_000017.10:g.33902922G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008217.2, RCV000415755.1,