rs267608254

Orientation

plus

Stabilized

plus

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

Make rs267608254(A;A)

Make rs267608254(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

136825272

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs267608254
dbSNP (classic)	rs267608254
ClinGen	rs267608254
ebi	rs267608254
HLI	rs267608254
Exac	rs267608254
Gnomad	rs267608254
Varsome	rs267608254
LitVar	rs267608254
Map	rs267608254
PheGenI	rs267608254
Biobank	rs267608254
1000 genomes	rs267608254
hgdp	rs267608254
ensembl	rs267608254
geneview	rs267608254
scholar	rs267608254
google	rs267608254
pharmgkb	rs267608254
gwascentral	rs267608254
openSNP	rs267608254
23andMe	rs267608254
SNPshot	rs267608254
SNPdbe	rs267608254
MSV3d	rs267608254
GWAS Ctlg	rs267608254

Max Magnitude

0

ClinVar
Risk	rs267608254(A;A) rs267608254(C;C)
Alt	rs267608254(A;A) rs267608254(C;C)
Reference	Rs267608254(G;G)
Significance	Pathogenic
Disease	Rhizomelic chondrodysplasia punctata type 1
Variation	info
Gene	PEX7
CLNDBN	Rhizomelic chondrodysplasia punctata type 1
Reversed	0
HGVS	NC_000006.11:g.137146410G>C
CLNSRC
CLNACC	RCV000169353.1,