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rs1057518879

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518879(A;A)
Make rs1057518879(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position11965571
GenePLOD1
is asnp
is mentioned by
dbSNPrs1057518879
dbSNP (old)rs1057518879
ClinGenrs1057518879
ebirs1057518879
HLIrs1057518879
Exacrs1057518879
Gnomadrs1057518879
Varsomers1057518879
Maprs1057518879
PheGenIrs1057518879
Biobankrs1057518879
1000 genomesrs1057518879
hgdprs1057518879
ensemblrs1057518879
gopubmedrs1057518879
geneviewrs1057518879
scholarrs1057518879
googlers1057518879
pharmgkbrs1057518879
gwascentralrs1057518879
openSNPrs1057518879
23andMers1057518879
23andMe allrs1057518879
SNPshotrs1057518879
SNPdbers1057518879
MSV3drs1057518879
GWAS Ctlgrs1057518879
Max Magnitude0
ClinVar
Risk rs1057518879(A;A)
Alt rs1057518879(A;A)
Reference Rs1057518879(G;G)
Significance Pathogenic
Disease Depressed nasal bridge Generalized hypotonia High palate Joint hypermobility Omphalocele Thoracolumbar scoliosis
Variation info
Gene PLOD1
CLNDBN Depressed nasal bridge Generalized hypotonia High palate Joint hypermobility Omphalocele Thoracolumbar scoliosis
Reversed 0
HGVS NC_000001.10:g.12025628G>A
CLNSRC
CLNACC RCV000415262.1,