rs1057516961

Orientation

plus

Stabilized

plus

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

Make rs1057516961(-;-)

Make rs1057516961(-;ATGCTGCGGACGCCGGGACGCCACGG)

Make rs1057516961(ATGCTGCGGACGCCGGGACGCCACGG;ATGCTGCGGACGCCGGGACGCCACGG)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136822696

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs1057516961
dbSNP (classic)	rs1057516961
ClinGen	rs1057516961
ebi	rs1057516961
HLI	rs1057516961
Exac	rs1057516961
Gnomad	rs1057516961
Varsome	rs1057516961
LitVar	rs1057516961
Map	rs1057516961
PheGenI	rs1057516961
Biobank	rs1057516961
1000 genomes	rs1057516961
hgdp	rs1057516961
ensembl	rs1057516961
geneview	rs1057516961
scholar	rs1057516961
google	rs1057516961
pharmgkb	rs1057516961
gwascentral	rs1057516961
openSNP	rs1057516961
23andMe	rs1057516961
SNPshot	rs1057516961
SNPdbe	rs1057516961
MSV3d	rs1057516961
GWAS Ctlg	rs1057516961

Max Magnitude

0

ClinVar
Risk	rs1057516961(-;-)
Alt	rs1057516961(-;-)
Reference	Rs1057516961(CGGATGCTGCGGACGCCGGGACGCCA;CGGATGCTGCGGACGCCGGGACGCCA)
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.137143834_137143859del26
CLNSRC
CLNACC	RCV000409296.1,