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rs1057516574

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516574(-;T)
Make rs1057516574(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136866645
GenePEX7
is asnp
is mentioned by
dbSNPrs1057516574
dbSNP (old)rs1057516574
ClinGenrs1057516574
ebirs1057516574
HLIrs1057516574
Exacrs1057516574
Gnomadrs1057516574
Varsomers1057516574
LitVarrs1057516574
Maprs1057516574
PheGenIrs1057516574
Biobankrs1057516574
1000 genomesrs1057516574
hgdprs1057516574
ensemblrs1057516574
gopubmedrs1057516574
geneviewrs1057516574
scholarrs1057516574
googlers1057516574
pharmgkbrs1057516574
gwascentralrs1057516574
openSNPrs1057516574
23andMers1057516574
23andMe allrs1057516574
SNPshotrs1057516574
SNPdbers1057516574
MSV3drs1057516574
GWAS Ctlgrs1057516574
Max Magnitude0
ClinVar
Risk rs1057516574(T;T)
Alt rs1057516574(T;T)
Reference Rs1057516574(-;-)
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.137187783dupT
CLNSRC
CLNACC RCV000411675.1,