rs267608253

Orientation

plus

Stabilized

plus

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

Make rs267608253(A;A)

Make rs267608253(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

136822796

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs267608253
dbSNP (classic)	rs267608253
ClinGen	rs267608253
ebi	rs267608253
HLI	rs267608253
Exac	rs267608253
Gnomad	rs267608253
Varsome	rs267608253
LitVar	rs267608253
Map	rs267608253
PheGenI	rs267608253
Biobank	rs267608253
1000 genomes	rs267608253
hgdp	rs267608253
ensembl	rs267608253
geneview	rs267608253
scholar	rs267608253
google	rs267608253
pharmgkb	rs267608253
gwascentral	rs267608253
openSNP	rs267608253
23andMe	rs267608253
SNPshot	rs267608253
SNPdbe	rs267608253
MSV3d	rs267608253
GWAS Ctlg	rs267608253

Max Magnitude

0

ClinVar
Risk	rs267608253(A;A) rs267608253(C;C)
Alt	rs267608253(A;A) rs267608253(C;C)
Reference	Rs267608253(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.137143934G>C
CLNSRC
CLNACC	RCV000409059.1,