Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516827

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516827(-;-)
Make rs1057516827(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136846163
GenePEX7
is asnp
is mentioned by
dbSNPrs1057516827
dbSNP (old)rs1057516827
ClinGenrs1057516827
ebirs1057516827
HLIrs1057516827
Exacrs1057516827
Gnomadrs1057516827
Varsomers1057516827
Maprs1057516827
PheGenIrs1057516827
Biobankrs1057516827
1000 genomesrs1057516827
hgdprs1057516827
ensemblrs1057516827
gopubmedrs1057516827
geneviewrs1057516827
scholarrs1057516827
googlers1057516827
pharmgkbrs1057516827
gwascentralrs1057516827
openSNPrs1057516827
23andMers1057516827
23andMe allrs1057516827
SNPshotrs1057516827
SNPdbers1057516827
MSV3drs1057516827
GWAS Ctlgrs1057516827
Max Magnitude0
ClinVar
Risk rs1057516827(-;-)
Alt rs1057516827(-;-)
Reference Rs1057516827(T;T)
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.137167301delT
CLNSRC
CLNACC RCV000411123.1,