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rs1057516882

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516882(C;G)
Make rs1057516882(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136822725
GenePEX7
is asnp
is mentioned by
dbSNPrs1057516882
dbSNP (old)rs1057516882
ClinGenrs1057516882
ebirs1057516882
HLIrs1057516882
Exacrs1057516882
Gnomadrs1057516882
Varsomers1057516882
Maprs1057516882
PheGenIrs1057516882
Biobankrs1057516882
1000 genomesrs1057516882
hgdprs1057516882
ensemblrs1057516882
gopubmedrs1057516882
geneviewrs1057516882
scholarrs1057516882
googlers1057516882
pharmgkbrs1057516882
gwascentralrs1057516882
openSNPrs1057516882
23andMers1057516882
23andMe allrs1057516882
SNPshotrs1057516882
SNPdbers1057516882
MSV3drs1057516882
GWAS Ctlgrs1057516882
Max Magnitude0
ClinVar
Risk rs1057516882(G;G)
Alt rs1057516882(G;G)
Reference Rs1057516882(C;C)
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.137143863C>G
CLNSRC
CLNACC RCV000411102.1,