rs1057517339

Orientation

plus

Stabilized

plus

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

Make rs1057517339(A;G)

Make rs1057517339(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136866625

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs1057517339
dbSNP (classic)	rs1057517339
ClinGen	rs1057517339
ebi	rs1057517339
HLI	rs1057517339
Exac	rs1057517339
Gnomad	rs1057517339
Varsome	rs1057517339
LitVar	rs1057517339
Map	rs1057517339
PheGenI	rs1057517339
Biobank	rs1057517339
1000 genomes	rs1057517339
hgdp	rs1057517339
ensembl	rs1057517339
geneview	rs1057517339
scholar	rs1057517339
google	rs1057517339
pharmgkb	rs1057517339
gwascentral	rs1057517339
openSNP	rs1057517339
23andMe	rs1057517339
SNPshot	rs1057517339
SNPdbe	rs1057517339
MSV3d	rs1057517339
GWAS Ctlg	rs1057517339

Max Magnitude

0

ClinVar
Risk	rs1057517339(G;G)
Alt	rs1057517339(G;G)
Reference	Rs1057517339(A;A)
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.137187763A>G
CLNSRC
CLNACC	RCV000411178.1,