rs1867877

Homo sapiens
T>C
IGSF22 : Missense Variant
LOC105376579 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0046 (1400/29962,GnomAD)
C=0038 (1130/29118,TOPMED)
C=0029 (568/19572,ExAC)
C=0022 (110/5008,1000G)
T==0042 (193/4566,GO-ESP)
C=0047 (181/3854,ALSPAC)
C=0053 (198/3708,TWINSUK)
chr11:18705901 (GRCh38.p7) (11p15.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
111 Enhancers around
42 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.18705901T>C
GRCh37.p13 chr 11NC_000011.9:g.18727448T>C

Gene: IGSF22, immunoglobulin superfamily member 22(minus strand)

Molecule type Change Amino acid[Codon] SO Term
IGSF22 transcriptNM_173588.3:c.382...NM_173588.3:c.3826A>GT [ACG]> A [GCG]Coding Sequence Variant
immunoglobulin superfamily member 22NP_775859.3:p.Thr...NP_775859.3:p.Thr1276AlaT [Thr]> A [Ala]Missense Variant
IGSF22 transcript variant X1XM_011520030.2:c....XM_011520030.2:c.3886A>GT [ACG]> A [GCG]Coding Sequence Variant
immunoglobulin superfamily member 22 isoform X1XP_011518332.1:p....XP_011518332.1:p.Thr1296AlaT [Thr]> A [Ala]Missense Variant
IGSF22 transcript variant X2XM_017017607.1:c....XM_017017607.1:c.3886A>GT [ACG]> A [GCG]Coding Sequence Variant
immunoglobulin superfamily member 22 isoform X1XP_016873096.1:p....XP_016873096.1:p.Thr1296AlaT [Thr]> A [Ala]Missense Variant
IGSF22 transcript variant X3XM_011520031.2:c....XM_011520031.2:c.3583A>GT [ACG]> A [GCG]Coding Sequence Variant
immunoglobulin superfamily member 22 isoform X2XP_011518333.1:p....XP_011518333.1:p.Thr1195AlaT [Thr]> A [Ala]Missense Variant
IGSF22 transcript variant X4XM_017017608.1:c....XM_017017608.1:c.3826A>GT [ACG]> A [GCG]Coding Sequence Variant
immunoglobulin superfamily member 22 isoform X3XP_016873097.1:p....XP_016873097.1:p.Thr1276AlaT [Thr]> A [Ala]Missense Variant

Gene: LOC105376579, uncharacterized LOC105376579(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105376579 transcript variant X2XR_001748146.1:n.N/AUpstream Transcript Variant
LOC105376579 transcript variant X3XR_001748147.1:n.N/AUpstream Transcript Variant
LOC105376579 transcript variant X1XR_931098.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.976C=0.024
1000GenomesAmericanSub694T=0.970C=0.030
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.949C=0.051
1000GenomesGlobalStudy-wide5008T=0.978C=0.022
1000GenomesSouth AsianSub978T=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.953C=0.047
The Exome Aggregation ConsortiumAmericanSub2530T=0.977C=0.023
The Exome Aggregation ConsortiumAsianSub8500T=0.990C=0.010
The Exome Aggregation ConsortiumEuropeSub8356T=0.950C=0.050
The Exome Aggregation ConsortiumGlobalStudy-wide19572T=0.971C=0.029
The Exome Aggregation ConsortiumOtherSub186T=0.970C=0.030
The Genome Aggregation DatabaseAfricanSub8718T=0.968C=0.032
The Genome Aggregation DatabaseAmericanSub838T=0.970C=0.030
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18482T=0.940C=0.059
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.953C=0.046
The Genome Aggregation DatabaseOtherSub302T=0.990C=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.961C=0.038
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.947C=0.053
PMID Title Author Journal
28990359Ancestry-specific and sex-specific risk alleles identified in a genome-wide gene-by-alcohol dependence interaction study of risky sexual behaviors.Polimanti RAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs18678772E-09alcohol dependence28990359

eQTL of rs1867877 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 rs1867877 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 )
chr111872584718725964E067-1484
chr111872599318726120E067-1328
chr111872624418726340E067-1108
chr111872635118726932E067-516
chr111872897718729070E0671529
chr111872910918729187E0671661
chr111872925918729324E0671811
chr111874171818741891E06714270
chr111877108318771740E06743635
chr111877177118771811E06744323
chr111877195318772003E06744505
chr111877412518774407E06746677
chr111877442218774475E06746974
chr111877459518774645E06747147
chr111872410418724214E068-3234
chr111872423218724282E068-3166
chr111872455118724676E068-2772
chr111872476918724869E068-2579
chr111872496918725046E068-2402
chr111872599318726120E068-1328
chr111872624418726340E068-1108
chr111872635118726932E068-516
chr111874535218745402E06817904
chr111874541318745517E06817965
chr111874562918745685E06818181
chr111874572918745813E06818281
chr111874591418746212E06818466
chr111875495118754995E06827503
chr111875507518755152E06827627
chr111875524818755343E06827800
chr111875545318755585E06828005
chr111875573218755772E06828284
chr111875579118755841E06828343
chr111875587218755939E06828424
chr111875611318756187E06828665
chr111877108318771740E06843635
chr111877177118771811E06844323
chr111877195318772003E06844505
chr111877222018772277E06844772
chr111877257418772644E06845126
chr111877302518773075E06845577
chr111877337718773498E06845929
chr111877412518774407E06846677
chr111877442218774475E06846974
chr111877459518774645E06847147
chr111872635118726932E069-516
chr111877108318771740E06943635
chr111877177118771811E06944323
chr111877195318772003E06944505
chr111877412518774407E06946677
chr111877442218774475E06946974
chr111877459518774645E06947147
chr111872897718729070E0701529
chr111877412518774407E07046677
chr111872624418726340E071-1108
chr111872635118726932E071-516
chr111872897718729070E0711529
chr111872910918729187E0711661
chr111872925918729324E0711811
chr111872934918729521E0711901
chr111872958218729632E0712134
chr111877073018770886E07143282
chr111877108318771740E07143635
chr111877177118771811E07144323
chr111877412518774407E07146677
chr111877442218774475E07146974
chr111877459518774645E07147147
chr111872635118726932E072-516
chr111874891518749725E07221467
chr111874977718749827E07222329
chr111877030818770401E07242860
chr111877063618770707E07243188
chr111877073018770886E07243282
chr111877108318771740E07243635
chr111877177118771811E07244323
chr111877195318772003E07244505
chr111877222018772277E07244772
chr111877257418772644E07245126
chr111877412518774407E07246677
chr111877442218774475E07246974
chr111877459518774645E07247147
chr111872245718722721E073-4727
chr111872276718722933E073-4515
chr111872307818723278E073-4170
chr111872584718725964E073-1484
chr111872635118726932E073-516
chr111874171818741891E07314270
chr111874562918745685E07318181
chr111874572918745813E07318281
chr111874591418746212E07318466
chr111877177118771811E07344323
chr111877195318772003E07344505
chr111872624418726340E074-1108
chr111872635118726932E074-516
chr111874891518749725E07421467
chr111877108318771740E07443635
chr111877412518774407E07446677
chr111877442218774475E07446974
chr111877459518774645E07447147
chr111872897718729070E0811529
chr111872910918729187E0811661
chr111872925918729324E0811811
chr111872934918729521E0811901
chr111872958218729632E0812134
chr111872970318729796E0812255
chr111872980918729909E0812361
chr111872991518729965E0812467
chr111872998518730081E0812537
chr111873172418731784E0814276
chr111872897718729070E0821529
chr111872910918729187E0821661










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr111871944718722367E067-5081
chr111872790118728976E067453
chr111874195118744071E06714503
chr111871944718722367E068-5081
chr111872790118728976E068453
chr111874195118744071E06814503
chr111876085418760916E06833406
chr111876100818761062E06833560
chr111876221618762256E06834768
chr111876233018762407E06834882
chr111876281618762900E06835368
chr111876307718763132E06835629
chr111876347918763559E06836031
chr111876378318763837E06836335
chr111876431918764448E06836871
chr111876483518764885E06837387
chr111876529418765398E06837846
chr111876548818765583E06838040
chr111876568718765754E06838239
chr111871944718722367E069-5081
chr111872790118728976E069453
chr111874195118744071E06914503
chr111871944718722367E070-5081
chr111872790118728976E070453
chr111874195118744071E07014503
chr111871944718722367E071-5081
chr111872790118728976E071453
chr111874195118744071E07114503
chr111871944718722367E072-5081
chr111872790118728976E072453
chr111874195118744071E07214503
chr111871944718722367E073-5081
chr111872790118728976E073453
chr111874195118744071E07314503
chr111871944718722367E074-5081
chr111872790118728976E074453
chr111874195118744071E07414503
chr111872790118728976E081453
chr111874195118744071E08114503
chr111871944718722367E082-5081
chr111872790118728976E082453
chr111874195118744071E08214503