rs397514472

Orientation

minus

Stabilized

minus

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

Make rs397514472(A;G)

Make rs397514472(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

45910273

Gene

PEX16

is a	snp
is	mentioned by
dbSNP	rs397514472
dbSNP (classic)	rs397514472
ClinGen	rs397514472
ebi	rs397514472
HLI	rs397514472
Exac	rs397514472
Gnomad	rs397514472
Varsome	rs397514472
LitVar	rs397514472
Map	rs397514472
PheGenI	rs397514472
Biobank	rs397514472
1000 genomes	rs397514472
hgdp	rs397514472
ensembl	rs397514472
geneview	rs397514472
scholar	rs397514472
google	rs397514472
pharmgkb	rs397514472
gwascentral	rs397514472
openSNP	rs397514472
23andMe	rs397514472
SNPshot	rs397514472
SNPdbe	rs397514472
MSV3d	rs397514472
GWAS Ctlg	rs397514472

Max Magnitude

0

ClinVar
Risk	rs397514472(G;G)
Alt	rs397514472(G;G)
Reference	Rs397514472(A;A)
Significance	Pathogenic
Disease	Peroxisome biogenesis disorder 8B
Variation	info
Gene	PEX16
CLNDBN	Peroxisome biogenesis disorder 8B
Reversed	1
HGVS	NC_000011.9:g.45931824T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023295.2,