rs1057516824

Orientation

plus

Stabilized

plus

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

Make rs1057516824(-;-)

Make rs1057516824(-;GGCCTCTTGCT)

Make rs1057516824(GGCCTCTTGCT;GGCCTCTTGCT)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136872224

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs1057516824
dbSNP (classic)	rs1057516824
ClinGen	rs1057516824
ebi	rs1057516824
HLI	rs1057516824
Exac	rs1057516824
Gnomad	rs1057516824
Varsome	rs1057516824
LitVar	rs1057516824
Map	rs1057516824
PheGenI	rs1057516824
Biobank	rs1057516824
1000 genomes	rs1057516824
hgdp	rs1057516824
ensembl	rs1057516824
geneview	rs1057516824
scholar	rs1057516824
google	rs1057516824
pharmgkb	rs1057516824
gwascentral	rs1057516824
openSNP	rs1057516824
23andMe	rs1057516824
SNPshot	rs1057516824
SNPdbe	rs1057516824
MSV3d	rs1057516824
GWAS Ctlg	rs1057516824

Max Magnitude

0

ClinVar
Risk	rs1057516824(-;-)
Alt	rs1057516824(-;-)
Reference	Rs1057516824(TGCTGGCCTCT;TGCTGGCCTCT)
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.137193362_137193372delGGCCTCTTGCT
CLNSRC
CLNACC	RCV000410971.1,