rs1057516827

Orientation

plus

Stabilized

plus

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

Make rs1057516827(-;-)

Make rs1057516827(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136846163

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs1057516827
dbSNP (classic)	rs1057516827
ClinGen	rs1057516827
ebi	rs1057516827
HLI	rs1057516827
Exac	rs1057516827
Gnomad	rs1057516827
Varsome	rs1057516827
LitVar	rs1057516827
Map	rs1057516827
PheGenI	rs1057516827
Biobank	rs1057516827
1000 genomes	rs1057516827
hgdp	rs1057516827
ensembl	rs1057516827
geneview	rs1057516827
scholar	rs1057516827
google	rs1057516827
pharmgkb	rs1057516827
gwascentral	rs1057516827
openSNP	rs1057516827
23andMe	rs1057516827
SNPshot	rs1057516827
SNPdbe	rs1057516827
MSV3d	rs1057516827
GWAS Ctlg	rs1057516827

Max Magnitude

0

ClinVar
Risk	rs1057516827(-;-)
Alt	rs1057516827(-;-)
Reference	Rs1057516827(T;T)
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.137167301delT
CLNSRC
CLNACC	RCV000411123.1,