rs62653604

Orientation

plus

Stabilized

plus

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

Make rs62653604(C;T)

Make rs62653604(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136826464

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs62653604
dbSNP (classic)	rs62653604
ClinGen	rs62653604
ebi	rs62653604
HLI	rs62653604
Exac	rs62653604
Gnomad	rs62653604
Varsome	rs62653604
LitVar	rs62653604
Map	rs62653604
PheGenI	rs62653604
Biobank	rs62653604
1000 genomes	rs62653604
hgdp	rs62653604
ensembl	rs62653604
geneview	rs62653604
scholar	rs62653604
google	rs62653604
pharmgkb	rs62653604
gwascentral	rs62653604
openSNP	rs62653604
23andMe	rs62653604
SNPshot	rs62653604
SNPdbe	rs62653604
MSV3d	rs62653604
GWAS Ctlg	rs62653604

Max Magnitude

0

ClinVar
Risk	rs62653604(T;T)
Alt	rs62653604(T;T)
Reference	Rs62653604(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.137147602C>T
CLNSRC
CLNACC	RCV000411360.1,