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rs764346452

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764346452(A;A)
Make rs764346452(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position136845675
GenePEX7
is asnp
is mentioned by
dbSNPrs764346452
ClinGenrs764346452
ebirs764346452
HLIrs764346452
Exacrs764346452
Varsomers764346452
Maprs764346452
PheGenIrs764346452
hapmaprs764346452
1000 genomesrs764346452
hgdprs764346452
ensemblrs764346452
gopubmedrs764346452
geneviewrs764346452
scholarrs764346452
googlers764346452
pharmgkbrs764346452
gwascentralrs764346452
openSNPrs764346452
23andMers764346452
23andMe allrs764346452
SNP Nexus

SNPshotrs764346452
SNPdbers764346452
MSV3drs764346452
GWAS Ctlgrs764346452
Max Magnitude0
ClinVar
Risk rs764346452(A;A)
Alt rs764346452(A;A)
Reference Rs764346452(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.137166813G>A
CLNSRC
CLNACC RCV000169000.1,