rs1057516574

Orientation

plus

Stabilized

plus

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

Make rs1057516574(-;T)

Make rs1057516574(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136866645

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs1057516574
dbSNP (classic)	rs1057516574
ClinGen	rs1057516574
ebi	rs1057516574
HLI	rs1057516574
Exac	rs1057516574
Gnomad	rs1057516574
Varsome	rs1057516574
LitVar	rs1057516574
Map	rs1057516574
PheGenI	rs1057516574
Biobank	rs1057516574
1000 genomes	rs1057516574
hgdp	rs1057516574
ensembl	rs1057516574
geneview	rs1057516574
scholar	rs1057516574
google	rs1057516574
pharmgkb	rs1057516574
gwascentral	rs1057516574
openSNP	rs1057516574
23andMe	rs1057516574
SNPshot	rs1057516574
SNPdbe	rs1057516574
MSV3d	rs1057516574
GWAS Ctlg	rs1057516574

Max Magnitude

0

ClinVar
Risk	rs1057516574(T;T)
Alt	rs1057516574(T;T)
Reference	Rs1057516574(-;-)
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.137187783dupT
CLNSRC
CLNACC	RCV000411675.1,