SNP Detail For rs592229
1.Mapping Information
Human SNP ID rs592229
Human chromosome chr6
Human SNP position 31962664
Pig chromosome chr7
Pig SNP position 27761367
2.Annotation Information
PubMed ID23382691
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23382691
StudyLoci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
Disease/TraitIgG glycosylation
Initial sample2,247 European ancestry individuals
Replication sampleNA
Region6p21.33
Chromosome idchr6
Chromosome position31962664
Reported geneNR
Mapped geneSKIV2L
Upstream gene id
Downstream gene id
SNP gene ids6499
Upstream gene distance
Downstream gene distance
SNP risk allelers592229-G
SNPsrs592229
Merged0
SNP id current592229
Contextintron_variant
Intergenic0
Allele frequency0.370283129554656
P value0.000009
Pvalue mlog5.04575749056067
P value text(IGP2)
Or beta0.1479
%95 Ci[0.083-0.213] unit increase
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitserum IgG glycosylation measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005193
Study accessionGCST001848
PubMed ID23382691
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23382691
StudyLoci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
Disease/TraitIgG glycosylation
Initial sample2,247 European ancestry individuals
Replication sampleNA
Region6p21.33
Chromosome idchr6
Chromosome position31962664
Reported geneNR
Mapped geneSKIV2L
Upstream gene id
Downstream gene id
SNP gene ids6499
Upstream gene distance
Downstream gene distance
SNP risk allelers592229-G
SNPsrs592229
Merged0
SNP id current592229
Contextintron_variant
Intergenic0
Allele frequency0.370399655280899
P value0.000004
Pvalue mlog5.39794000867203
P value text(IGP42)
Or beta0.1536
%95 Ci[0.088-0.219] unit increase
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitserum IgG glycosylation measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005193
Study accessionGCST001848
PubMed ID25281659
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25281659
StudyA novel common variant in DCST2 is associated with length in early life and height in adulthood.
Disease/TraitInfant length
Initial sample28,238 European ancestry individuals
Replication sampleNA
Region6p21.33
Chromosome idchr6
Chromosome position31962664
Reported geneHLA
Mapped geneSKIV2L
Upstream gene id
Downstream gene id
SNP gene ids6499
Upstream gene distance
Downstream gene distance
SNP risk allelers592229-G
SNPsrs592229
Merged0
SNP id current592229
Contextintron_variant
Intergenic0
Allele frequency0.43
P value0.00000002
Pvalue mlog7.69897000433601
P value text
Or beta0.048
%95 Ci[0.030-0.066] unit increase
PlatformAffymetrix, Illumina [2193675] (imputed)
CNVN
Mapped traitinfant body height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006785
Study accessionGCST002646