rs1057516989

Orientation

plus

Stabilized

plus

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

Make rs1057516989(A;A)

Make rs1057516989(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136866734

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs1057516989
dbSNP (classic)	rs1057516989
ClinGen	rs1057516989
ebi	rs1057516989
HLI	rs1057516989
Exac	rs1057516989
Gnomad	rs1057516989
Varsome	rs1057516989
LitVar	rs1057516989
Map	rs1057516989
PheGenI	rs1057516989
Biobank	rs1057516989
1000 genomes	rs1057516989
hgdp	rs1057516989
ensembl	rs1057516989
geneview	rs1057516989
scholar	rs1057516989
google	rs1057516989
pharmgkb	rs1057516989
gwascentral	rs1057516989
openSNP	rs1057516989
23andMe	rs1057516989
SNPshot	rs1057516989
SNPdbe	rs1057516989
MSV3d	rs1057516989
GWAS Ctlg	rs1057516989

Max Magnitude

0

ClinVar
Risk	rs1057516989(A;A)
Alt	rs1057516989(A;A)
Reference	Rs1057516989(G;G)
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.137187872G>A
CLNSRC
CLNACC	RCV000411695.1,