rs1057516737

Orientation

plus

Stabilized

plus

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

Make rs1057516737(C;G)

Make rs1057516737(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136822746

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs1057516737
dbSNP (classic)	rs1057516737
ClinGen	rs1057516737
ebi	rs1057516737
HLI	rs1057516737
Exac	rs1057516737
Gnomad	rs1057516737
Varsome	rs1057516737
LitVar	rs1057516737
Map	rs1057516737
PheGenI	rs1057516737
Biobank	rs1057516737
1000 genomes	rs1057516737
hgdp	rs1057516737
ensembl	rs1057516737
geneview	rs1057516737
scholar	rs1057516737
google	rs1057516737
pharmgkb	rs1057516737
gwascentral	rs1057516737
openSNP	rs1057516737
23andMe	rs1057516737
SNPshot	rs1057516737
SNPdbe	rs1057516737
MSV3d	rs1057516737
GWAS Ctlg	rs1057516737

Max Magnitude

0

ClinVar
Risk	rs1057516737(G;G)
Alt	rs1057516737(G;G)
Reference	Rs1057516737(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.137143884C>G
CLNSRC
CLNACC	RCV000411754.1,