SNP Detail For rs4720952
1.Mapping Information
Human SNP ID rs4720952
Human chromosome chr7
Human SNP position 11251773
Pig chromosome chr9
Pig SNP position 88904987
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
Region7p21.3
Chromosome idchr7
Chromosome position11251773
Reported geneNR
Mapped genePHF14 - NPM1P11
Upstream gene id9678
Downstream gene id10836
SNP gene ids
Upstream gene distance81945
Downstream gene distance5602
SNP risk allelers4720952-G
SNPsrs4720952
Merged0
SNP id current4720952
Contextintron_variant
Intergenic1
Allele frequency0.419193108861898
P value0.0000003
Pvalue mlog6.52287874528033
P value text(IGP12)
Or beta0.1583
%95 Ci[0.098-0.219] unit decrease
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
Region7p21.3
Chromosome idchr7
Chromosome position11251773
Reported geneNR
Mapped genePHF14 - NPM1P11
Upstream gene id9678
Downstream gene id10836
SNP gene ids
Upstream gene distance81945
Downstream gene distance5602
SNP risk allelers4720952-G
SNPsrs4720952
Merged0
SNP id current4720952
Contextintron_variant
Intergenic1
Allele frequency0.419614749097473
P value0.0000007
Pvalue mlog6.15490195998574
P value text(IGP52)
Or beta0.1534
%95 Ci[0.093-0.214] unit decrease
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
Region7p21.3
Chromosome idchr7
Chromosome position11251773
Reported geneNR
Mapped genePHF14 - NPM1P11
Upstream gene id9678
Downstream gene id10836
SNP gene ids
Upstream gene distance81945
Downstream gene distance5602
SNP risk allelers4720952-G
SNPsrs4720952
Merged0
SNP id current4720952
Contextintron_variant
Intergenic1
Allele frequency0.419614954873646
P value0.0000004
Pvalue mlog6.39794000867203
P value text(IGP73)
Or beta0.1566
%95 Ci[0.096-0.217] unit decrease
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitserum IgG glycosylation measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005193
Study accessionGCST001848