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

rs1057516737

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516737(C;G)
Make rs1057516737(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136822746
GenePEX7
is asnp
is mentioned by
dbSNPrs1057516737
dbSNP (old)rs1057516737
ClinGenrs1057516737
ebirs1057516737
HLIrs1057516737
Exacrs1057516737
Gnomadrs1057516737
Varsomers1057516737
Maprs1057516737
PheGenIrs1057516737
Biobankrs1057516737
1000 genomesrs1057516737
hgdprs1057516737
ensemblrs1057516737
gopubmedrs1057516737
geneviewrs1057516737
scholarrs1057516737
googlers1057516737
pharmgkbrs1057516737
gwascentralrs1057516737
openSNPrs1057516737
23andMers1057516737
23andMe allrs1057516737
SNPshotrs1057516737
SNPdbers1057516737
MSV3drs1057516737
GWAS Ctlgrs1057516737
Max Magnitude0
ClinVar
Risk rs1057516737(G;G)
Alt rs1057516737(G;G)
Reference Rs1057516737(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.137143884C>G
CLNSRC
CLNACC RCV000411754.1,