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rs796051881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796051881(-;A)
Make rs796051881(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position7202275
GenePEX5
is asnp
is mentioned by
dbSNPrs796051881
dbSNP (old)rs796051881
ClinGenrs796051881
ebirs796051881
HLIrs796051881
Exacrs796051881
Varsomers796051881
Maprs796051881
PheGenIrs796051881
Biobankrs796051881
1000 genomesrs796051881
hgdprs796051881
ensemblrs796051881
gopubmedrs796051881
geneviewrs796051881
scholarrs796051881
googlers796051881
pharmgkbrs796051881
gwascentralrs796051881
openSNPrs796051881
23andMers796051881
23andMe allrs796051881
SNP Nexus

SNPshotrs796051881
SNPdbers796051881
MSV3drs796051881
GWAS Ctlgrs796051881
Max Magnitude0
ClinVar
Risk rs796051881(A;A)
Alt rs796051881(A;A)
Reference Rs796051881(-;-)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 5
Variation info
Gene PEX5
CLNDBN Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 5
Reversed 0
HGVS NC_000012.11:g.7354871dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000186575.1, RCV000202646.1,