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rs1057517059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517059(C;C)
Make rs1057517059(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136826471
GenePEX7
is asnp
is mentioned by
dbSNPrs1057517059
dbSNP (old)rs1057517059
ClinGenrs1057517059
ebirs1057517059
HLIrs1057517059
Exacrs1057517059
Gnomadrs1057517059
Varsomers1057517059
Maprs1057517059
PheGenIrs1057517059
Biobankrs1057517059
1000 genomesrs1057517059
hgdprs1057517059
ensemblrs1057517059
gopubmedrs1057517059
geneviewrs1057517059
scholarrs1057517059
googlers1057517059
pharmgkbrs1057517059
gwascentralrs1057517059
openSNPrs1057517059
23andMers1057517059
23andMe allrs1057517059
SNPshotrs1057517059
SNPdbers1057517059
MSV3drs1057517059
GWAS Ctlgrs1057517059
Max Magnitude0
ClinVar
Risk rs1057517059(C;C)
Alt rs1057517059(C;C)
Reference Rs1057517059(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.137147609T>C
CLNSRC
CLNACC RCV000409658.1,