rs1057517059

Orientation

plus

Stabilized

plus

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

Make rs1057517059(C;C)

Make rs1057517059(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136826471

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs1057517059
dbSNP (classic)	rs1057517059
ClinGen	rs1057517059
ebi	rs1057517059
HLI	rs1057517059
Exac	rs1057517059
Gnomad	rs1057517059
Varsome	rs1057517059
LitVar	rs1057517059
Map	rs1057517059
PheGenI	rs1057517059
Biobank	rs1057517059
1000 genomes	rs1057517059
hgdp	rs1057517059
ensembl	rs1057517059
geneview	rs1057517059
scholar	rs1057517059
google	rs1057517059
pharmgkb	rs1057517059
gwascentral	rs1057517059
openSNP	rs1057517059
23andMe	rs1057517059
SNPshot	rs1057517059
SNPdbe	rs1057517059
MSV3d	rs1057517059
GWAS Ctlg	rs1057517059

Max Magnitude

0

ClinVar
Risk	rs1057517059(C;C)
Alt	rs1057517059(C;C)
Reference	Rs1057517059(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.137147609T>C
CLNSRC
CLNACC	RCV000409658.1,