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rs1057517339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517339(A;G)
Make rs1057517339(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136866625
GenePEX7
is asnp
is mentioned by
dbSNPrs1057517339
dbSNP (old)rs1057517339
ClinGenrs1057517339
ebirs1057517339
HLIrs1057517339
Exacrs1057517339
Gnomadrs1057517339
Varsomers1057517339
LitVarrs1057517339
Maprs1057517339
PheGenIrs1057517339
Biobankrs1057517339
1000 genomesrs1057517339
hgdprs1057517339
ensemblrs1057517339
gopubmedrs1057517339
geneviewrs1057517339
scholarrs1057517339
googlers1057517339
pharmgkbrs1057517339
gwascentralrs1057517339
openSNPrs1057517339
23andMers1057517339
23andMe allrs1057517339
SNPshotrs1057517339
SNPdbers1057517339
MSV3drs1057517339
GWAS Ctlgrs1057517339
Max Magnitude0
ClinVar
Risk rs1057517339(G;G)
Alt rs1057517339(G;G)
Reference Rs1057517339(A;A)
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.137187763A>G
CLNSRC
CLNACC RCV000411178.1,