rs104894616

Orientation

minus

Stabilized

minus

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

Make rs104894616(A;T)

Make rs104894616(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

35576171

Gene

PEX12

is a	snp
is	mentioned by
dbSNP	rs104894616
dbSNP (classic)	rs104894616
ClinGen	rs104894616
ebi	rs104894616
HLI	rs104894616
Exac	rs104894616
Gnomad	rs104894616
Varsome	rs104894616
LitVar	rs104894616
Map	rs104894616
PheGenI	rs104894616
Biobank	rs104894616
1000 genomes	rs104894616
hgdp	rs104894616
ensembl	rs104894616
geneview	rs104894616
scholar	rs104894616
google	rs104894616
pharmgkb	rs104894616
gwascentral	rs104894616
openSNP	rs104894616
23andMe	rs104894616
SNPshot	rs104894616
SNPdbe	rs104894616
MSV3d	rs104894616
GWAS Ctlg	rs104894616

Max Magnitude

0

OMIM	601758
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894616(T;T)
Alt	rs104894616(T;T)
Reference	Rs104894616(A;A)
Significance	Pathogenic
Disease	Peroxisome biogenesis disorder 3A
Variation	info
Gene	PEX12
CLNDBN	Peroxisome biogenesis disorder 3A
Reversed	1
HGVS	NC_000017.10:g.33903190T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008215.3,