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rs1057516989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516989(A;A)
Make rs1057516989(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136866734
GenePEX7
is asnp
is mentioned by
dbSNPrs1057516989
dbSNP (old)rs1057516989
ClinGenrs1057516989
ebirs1057516989
HLIrs1057516989
Exacrs1057516989
Gnomadrs1057516989
Varsomers1057516989
LitVarrs1057516989
Maprs1057516989
PheGenIrs1057516989
Biobankrs1057516989
1000 genomesrs1057516989
hgdprs1057516989
ensemblrs1057516989
gopubmedrs1057516989
geneviewrs1057516989
scholarrs1057516989
googlers1057516989
pharmgkbrs1057516989
gwascentralrs1057516989
openSNPrs1057516989
23andMers1057516989
23andMe allrs1057516989
SNPshotrs1057516989
SNPdbers1057516989
MSV3drs1057516989
GWAS Ctlgrs1057516989
Max Magnitude0
ClinVar
Risk rs1057516989(A;A)
Alt rs1057516989(A;A)
Reference Rs1057516989(G;G)
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.137187872G>A
CLNSRC
CLNACC RCV000411695.1,