rs764346452

Orientation

plus

Stabilized

plus

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

Make rs764346452(A;A)

Make rs764346452(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

136845675

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs764346452
dbSNP (classic)	rs764346452
ClinGen	rs764346452
ebi	rs764346452
HLI	rs764346452
Exac	rs764346452
Gnomad	rs764346452
Varsome	rs764346452
LitVar	rs764346452
Map	rs764346452
PheGenI	rs764346452
Biobank	rs764346452
1000 genomes	rs764346452
hgdp	rs764346452
ensembl	rs764346452
geneview	rs764346452
scholar	rs764346452
google	rs764346452
pharmgkb	rs764346452
gwascentral	rs764346452
openSNP	rs764346452
23andMe	rs764346452
SNPshot	rs764346452
SNPdbe	rs764346452
MSV3d	rs764346452
GWAS Ctlg	rs764346452

Max Magnitude

0

ClinVar
Risk	rs764346452(A;A) rs764346452(T;T)
Alt	rs764346452(A;A) rs764346452(T;T)
Reference	Rs764346452(G;G)
Significance	Probable-Pathogenic
Disease	Rhizomelic chondrodysplasia punctata type 1
Variation	info
Gene	PEX7
CLNDBN	Rhizomelic chondrodysplasia punctata type 1
Reversed	0
HGVS	NC_000006.11:g.137166813G>A
CLNSRC
CLNACC	RCV000169000.1,