rs30461

Homo sapiens
A>G
IFNL1 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0136 (16539/121400,ExAC)
G=0245 (7329/29892,GnomAD)
G=0331 (9648/29118,TOPMED)
A==0280 (3642/13006,GO-ESP)
G=0252 (1260/5008,1000G)
G=0104 (399/3854,ALSPAC)
G=0095 (352/3708,TWINSUK)
chr19:39298475 (GRCh38.p7) (19q13.2)
AD
GWASdb2
5   publication(s)
See rs on genome
177 Enhancers around
49 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.39298475A>G
GRCh37.p13 chr 19NC_000019.9:g.39789115A>G

Gene: IFNL1, interferon, lambda 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
IFNL1 transcriptNM_172140.1:c.562A>GN [AAC]> D [GAC]Coding Sequence Variant
interferon lambda-1 precursorNP_742152.1:p.Asn...NP_742152.1:p.Asn188AspN [Asn]> D [Asp]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.289G=0.711
1000GenomesAmericanSub694A=0.870G=0.130
1000GenomesEast AsianSub1008A=0.962G=0.038
1000GenomesEuropeSub1006A=0.888G=0.112
1000GenomesGlobalStudy-wide5008A=0.748G=0.252
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.896G=0.104
The Exome Aggregation ConsortiumAmericanSub21984A=0.659G=0.340
The Exome Aggregation ConsortiumAsianSub25164A=0.930G=0.069
The Exome Aggregation ConsortiumEuropeSub73344A=0.901G=0.098
The Exome Aggregation ConsortiumGlobalStudy-wide121400A=0.863G=0.136
The Exome Aggregation ConsortiumOtherSub908A=0.890G=0.110
The Genome Aggregation DatabaseAfricanSub8686A=0.382G=0.618
The Genome Aggregation DatabaseAmericanSub834A=0.890G=0.110
The Genome Aggregation DatabaseEast AsianSub1614A=0.962G=0.038
The Genome Aggregation DatabaseEuropeSub18456A=0.905G=0.094
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.754G=0.245
The Genome Aggregation DatabaseOtherSub302A=0.810G=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.668G=0.331
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.905G=0.095
PMID Title Author Journal
22162829Evolutionary genetic dissection of human interferons.Manry JJ Exp Med
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
25255471Correlation of the interleukin-29 levels in crevicular fluid and plasma with the genetic polymorphism in chronic and aggressive periodontitis patients.Shivaprasad BMArch Oral Biol
27617784Increased Serum Levels of IL-28 and IL-29 and the Protective Effect of IL28B rs8099917 Polymorphism in Patients with Hashimoto's Thyroiditis.Arpaci DImmunol Invest
22840887Analysis of genetic variants of class II cytokine and their receptor genes in psoriasis patients of two ethnic groups from the Volga-Ural region of Russia.Galimova EJ Dermatol Sci

P-Value

SNP ID p-value Traits Study
rs304613.3E-05alcoholism (heaviness of drinking)21529783

eQTL of rs30461 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs30461 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr193980937339809469E06720258
chr193980961939809784E06720504
chr193981206639812206E06722951
chr193983465039834698E06745535
chr193983475239835190E06745637
chr193983534039835408E06746225
chr193983562439835685E06746509
chr193983570639835773E06746591
chr193983593339835986E06746818
chr193983599939836053E06746884
chr193983611439836210E06746999
chr193983626039836312E06747145
chr193983632239836467E06747207
chr193983654039836698E06747425
chr193983670239836855E06747587
chr193983693239836996E06747817
chr193983704439837091E06747929
chr193983718939837265E06748074
chr193983745539837515E06748340
chr193983807639838305E06748961
chr193983857839838726E06749463
chr193981206639812206E06822951
chr193983465039834698E06845535
chr193983475239835190E06845637
chr193983534039835408E06846225
chr193983562439835685E06846509
chr193983570639835773E06846591
chr193983593339835986E06846818
chr193983599939836053E06846884
chr193983611439836210E06846999
chr193983626039836312E06847145
chr193983632239836467E06847207
chr193983654039836698E06847425
chr193983670239836855E06847587
chr193983693239836996E06847817
chr193983465039834698E06945535
chr193983475239835190E06945637
chr193983534039835408E06946225
chr193983562439835685E06946509
chr193983570639835773E06946591
chr193983593339835986E06946818
chr193983599939836053E06946884
chr193983611439836210E06946999
chr193983626039836312E06947145
chr193983632239836467E06947207
chr193983654039836698E06947425
chr193983670239836855E06947587
chr193983693239836996E06947817
chr193983704439837091E06947929
chr193983718939837265E06948074
chr193983745539837515E06948340
chr193983807639838305E06948961
chr193983857839838726E06949463
chr193983881339838889E06949698
chr193980994439810002E07020829
chr193981001639810070E07020901
chr193983132439831371E07042209
chr193983465039834698E07045535
chr193983475239835190E07045637
chr193983534039835408E07046225
chr193983562439835685E07046509
chr193983570639835773E07046591
chr193983593339835986E07046818
chr193983599939836053E07046884
chr193983611439836210E07046999
chr193983626039836312E07047145
chr193983632239836467E07047207
chr193983654039836698E07047425
chr193983670239836855E07047587
chr193983693239836996E07047817
chr193973929939739353E071-49762
chr193973939939739489E071-49626
chr193980994439810002E07120829
chr193981001639810070E07120901
chr193983475239835190E07145637
chr193983534039835408E07146225
chr193983562439835685E07146509
chr193983570639835773E07146591
chr193983593339835986E07146818
chr193983599939836053E07146884
chr193983611439836210E07146999
chr193983626039836312E07147145
chr193983632239836467E07147207
chr193983654039836698E07147425
chr193983670239836855E07147587
chr193983693239836996E07147817
chr193983704439837091E07147929
chr193983718939837265E07148074
chr193983745539837515E07148340
chr193983807639838305E07148961
chr193983857839838726E07149463
chr193983881339838889E07149698
chr193980937339809469E07220258
chr193980961939809784E07220504
chr193983465039834698E07245535
chr193983475239835190E07245637
chr193983534039835408E07246225
chr193983562439835685E07246509
chr193983570639835773E07246591
chr193983593339835986E07246818
chr193983599939836053E07246884
chr193983611439836210E07246999
chr193983626039836312E07247145
chr193983632239836467E07247207
chr193983654039836698E07247425
chr193983670239836855E07247587
chr193983693239836996E07247817
chr193983704439837091E07247929
chr193983718939837265E07248074
chr193983745539837515E07248340
chr193983807639838305E07248961
chr193983857839838726E07249463
chr193983881339838889E07249698
chr193980043539800516E07311320
chr193981206639812206E07322951
chr193983465039834698E07345535
chr193983475239835190E07345637
chr193983534039835408E07346225
chr193983562439835685E07346509
chr193983570639835773E07346591
chr193983593339835986E07346818
chr193983599939836053E07346884
chr193983611439836210E07346999
chr193983626039836312E07347145
chr193983632239836467E07347207
chr193983654039836698E07347425
chr193983670239836855E07347587
chr193983693239836996E07347817
chr193983704439837091E07347929
chr193983718939837265E07348074
chr193983745539837515E07348340
chr193983807639838305E07348961
chr193983857839838726E07349463
chr193983881339838889E07349698
chr193981845539819269E07429340
chr193983465039834698E07445535
chr193983475239835190E07445637
chr193983534039835408E07446225
chr193983562439835685E07446509
chr193983570639835773E07446591
chr193983593339835986E07446818
chr193983599939836053E07446884
chr193983611439836210E07446999
chr193983626039836312E07447145
chr193983632239836467E07447207
chr193983654039836698E07447425
chr193983670239836855E07447587
chr193983693239836996E07447817
chr193983704439837091E07447929
chr193983718939837265E07448074
chr193983745539837515E07448340
chr193983807639838305E07448961
chr193980878739808842E08119672
chr193980919539809235E08120080
chr193980937339809469E08120258
chr193980988839809940E08120773
chr193981014439810234E08121029
chr193981812739818388E08129012
chr193983465039834698E08145535
chr193983611439836210E08146999
chr193983626039836312E08147145
chr193983632239836467E08147207
chr193983654039836698E08147425
chr193983670239836855E08147587
chr193983693239836996E08147817
chr193983704439837091E08147929
chr193983718939837265E08148074
chr193979970539799784E08210590
chr193980919539809235E08220080
chr193980937339809469E08220258
chr193980961939809784E08220504
chr193981223939812468E08223124
chr193983132439831371E08242209
chr193983465039834698E08245535
chr193983611439836210E08246999
chr193983626039836312E08247145
chr193983632239836467E08247207










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr193980115339801618E06712038
chr193980165339801947E06712538
chr193981063039811745E06721515
chr193981178739811993E06722672
chr193982582539826558E06736710
chr193983149339834574E06742378
chr193980115339801618E06812038
chr193980165339801947E06812538
chr193981063039811745E06821515
chr193981178739811993E06822672
chr193982582539826558E06836710
chr193983149339834574E06842378
chr193980115339801618E06912038
chr193980165339801947E06912538
chr193981063039811745E06921515
chr193981178739811993E06922672
chr193982582539826558E06936710
chr193983149339834574E06942378
chr193981063039811745E07021515
chr193981178739811993E07022672
chr193983149339834574E07042378
chr193980115339801618E07112038
chr193980165339801947E07112538
chr193981063039811745E07121515
chr193981178739811993E07122672
chr193982582539826558E07136710
chr193982656339826935E07137448
chr193983149339834574E07142378
chr193980115339801618E07212038
chr193980165339801947E07212538
chr193981063039811745E07221515
chr193981178739811993E07222672
chr193983149339834574E07242378
chr193980026339800313E07311148
chr193980115339801618E07312038
chr193980165339801947E07312538
chr193981063039811745E07321515
chr193981178739811993E07322672
chr193982582539826558E07336710
chr193983149339834574E07342378
chr193981063039811745E07421515
chr193981178739811993E07422672
chr193982582539826558E07436710
chr193983149339834574E07442378
chr193979742039798518E0828305
chr193980165339801947E08212538
chr193981063039811745E08221515
chr193981178739811993E08222672
chr193983149339834574E08242378