rs796051881

Orientation

plus

Stabilized

plus

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

Make rs796051881(-;A)

Make rs796051881(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

7202275

Gene

PEX5

is a	snp
is	mentioned by
dbSNP	rs796051881
dbSNP (classic)	rs796051881
ClinGen	rs796051881
ebi	rs796051881
HLI	rs796051881
Exac	rs796051881
Gnomad	rs796051881
Varsome	rs796051881
LitVar	rs796051881
Map	rs796051881
PheGenI	rs796051881
Biobank	rs796051881
1000 genomes	rs796051881
hgdp	rs796051881
ensembl	rs796051881
geneview	rs796051881
scholar	rs796051881
google	rs796051881
pharmgkb	rs796051881
gwascentral	rs796051881
openSNP	rs796051881
23andMe	rs796051881
SNPshot	rs796051881
SNPdbe	rs796051881
MSV3d	rs796051881
GWAS Ctlg	rs796051881

Max Magnitude

0

ClinVar
Risk	rs796051881(A;A)
Alt	rs796051881(A;A)
Reference	Rs796051881(-;-)
Significance	Pathogenic
Disease	Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 5
Variation	info
Gene	PEX5
CLNDBN	Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 5
Reversed	0
HGVS	NC_000012.11:g.7354871dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000186575.1, RCV000202646.1,