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rs267608254

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608254(A;A)
Make rs267608254(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position136825272
GenePEX7
is asnp
is mentioned by
dbSNPrs267608254
ebirs267608254
HLIrs267608254
Exacrs267608254
Varsomers267608254
Maprs267608254
PheGenIrs267608254
hapmaprs267608254
1000 genomesrs267608254
hgdprs267608254
ensemblrs267608254
gopubmedrs267608254
geneviewrs267608254
scholarrs267608254
googlers267608254
pharmgkbrs267608254
gwascentralrs267608254
openSNPrs267608254
23andMers267608254
23andMe allrs267608254
SNP Nexus

SNPshotrs267608254
SNPdbers267608254
MSV3drs267608254
GWAS Ctlgrs267608254
Max Magnitude0
ClinVar
Risk rs267608254(A,C;A,C)
Alt rs267608254(A,C;A,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,