rs763514968

Orientation

plus

Stabilized

plus

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

Make rs763514968(C;T)

Make rs763514968(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136826407

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs763514968
dbSNP (classic)	rs763514968
ClinGen	rs763514968
ebi	rs763514968
HLI	rs763514968
Exac	rs763514968
Gnomad	rs763514968
Varsome	rs763514968
LitVar	rs763514968
Map	rs763514968
PheGenI	rs763514968
Biobank	rs763514968
1000 genomes	rs763514968
hgdp	rs763514968
ensembl	rs763514968
geneview	rs763514968
scholar	rs763514968
google	rs763514968
pharmgkb	rs763514968
gwascentral	rs763514968
openSNP	rs763514968
23andMe	rs763514968
SNPshot	rs763514968
SNPdbe	rs763514968
MSV3d	rs763514968
GWAS Ctlg	rs763514968

Max Magnitude

0

ClinVar
Risk	rs763514968(T;T)
Alt	rs763514968(T;T)
Reference	Rs763514968(C;C)
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.137147545C>T
CLNSRC
CLNACC	RCV000409536.1,