rs1993912

Homo sapiens
A>C
KIAA2026 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0046 (1407/29978,GnomAD)
C=0067 (1951/29118,TOPMED)
C=0081 (407/5008,1000G)
C=0020 (76/3854,ALSPAC)
C=0024 (88/3708,TWINSUK)
chr9:5987781 (GRCh38.p7) (9p24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
97 Enhancers around
34 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.5987781A>C
GRCh37.p13 chr 9NC_000009.11:g.5987781A>C

Gene: KIAA2026, KIAA2026(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KIAA2026 transcriptNM_001017969.2:c.N/AIntron Variant
KIAA2026 transcript variant X1XM_005251385.2:c.N/AIntron Variant
KIAA2026 transcript variant X8XM_011517759.2:c.N/AIntron Variant
KIAA2026 transcript variant X9XM_011517760.2:c.N/AIntron Variant
KIAA2026 transcript variant X5XM_017014331.1:c.N/AIntron Variant
KIAA2026 transcript variant X20XM_017014335.1:c.N/AIntron Variant
KIAA2026 transcript variant X22XM_017014336.1:c.N/AIntron Variant
KIAA2026 transcript variant X11XM_006716730.3:c.N/AGenic Upstream Transcript Variant
KIAA2026 transcript variant X12XM_011517761.2:c.N/AGenic Upstream Transcript Variant
KIAA2026 transcript variant X13XM_017014332.1:c.N/AGenic Upstream Transcript Variant
KIAA2026 transcript variant X14XM_017014333.1:c.N/AGenic Upstream Transcript Variant
KIAA2026 transcript variant X15XM_017014334.1:c.N/AGenic Upstream Transcript Variant
KIAA2026 transcript variant X6XR_001746198.1:n.N/AIntron Variant
KIAA2026 transcript variant X7XR_001746199.1:n.N/AIntron Variant
KIAA2026 transcript variant X10XR_001746200.1:n.N/AIntron Variant
KIAA2026 transcript variant X16XR_001746201.1:n.N/AIntron Variant
KIAA2026 transcript variant X17XR_001746202.1:n.N/AIntron Variant
KIAA2026 transcript variant X18XR_001746203.1:n.N/AIntron Variant
KIAA2026 transcript variant X19XR_001746204.1:n.N/AIntron Variant
KIAA2026 transcript variant X21XR_001746205.1:n.N/AIntron Variant
KIAA2026 transcript variant X23XR_001746206.1:n.N/AIntron Variant
KIAA2026 transcript variant X24XR_001746207.1:n.N/AIntron Variant
KIAA2026 transcript variant X2XR_929192.2:n.N/AIntron Variant
KIAA2026 transcript variant X3XR_929193.2:n.N/AIntron Variant
KIAA2026 transcript variant X4XR_929197.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.843C=0.157
1000GenomesAmericanSub694A=0.980C=0.020
1000GenomesEast AsianSub1008A=0.970C=0.030
1000GenomesEuropeSub1006A=0.976C=0.024
1000GenomesGlobalStudy-wide5008A=0.919C=0.081
1000GenomesSouth AsianSub978A=0.870C=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.980C=0.020
The Genome Aggregation DatabaseAfricanSub8718A=0.886C=0.114
The Genome Aggregation DatabaseAmericanSub838A=0.980C=0.020
The Genome Aggregation DatabaseEast AsianSub1622A=0.978C=0.022
The Genome Aggregation DatabaseEuropeSub18498A=0.980C=0.019
The Genome Aggregation DatabaseGlobalStudy-wide29978A=0.953C=0.046
The Genome Aggregation DatabaseOtherSub302A=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.933C=0.067
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.976C=0.024
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs19939120.000616alcohol dependence21314694

eQTL of rs1993912 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 rs1993912 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 )
chr959395375940001E067-47780
chr959968785997164E0679097
chr959998685999926E06712087
chr960009396000989E06713158
chr960039316003991E06716150
chr960044186004458E06716637
chr960046666004766E06716885
chr960055826005633E06717801
chr960057166005793E06717935
chr960117136011763E06723932
chr960136486013698E06725867
chr959968785997164E0689097
chr959998685999926E06812087
chr960009396000989E06813158
chr960136486013698E06825867
chr960295786029670E06841797
chr960297626029922E06841981
chr959395375940001E069-47780
chr959480895948162E069-39619
chr959768435977015E069-10766
chr959770885977315E069-10466
chr959936295993679E0695848
chr959968785997164E0699097
chr959972835997333E0699502
chr960009396000989E06913158
chr960044186004458E06916637
chr960046666004766E06916885
chr960055826005633E06917801
chr960057166005793E06917935
chr960136486013698E06925867
chr960295786029670E06941797
chr960044186004458E07016637
chr960046666004766E07016885
chr960051076005168E07017326
chr960131156013155E07025334
chr960136486013698E07025867
chr959395375940001E071-47780
chr959768435977015E071-10766
chr959770885977315E071-10466
chr959830925983180E071-4601
chr959831965983378E071-4403
chr959968785997164E0719097
chr959972835997333E0719502
chr960009396000989E07113158
chr960046666004766E07116885
chr960051076005168E07117326
chr960053336005450E07117552
chr960055826005633E07117801
chr960057166005793E07117935
chr960136486013698E07125867
chr960291266029176E07141345
chr960295786029670E07141797
chr959393845939429E072-48352
chr959395375940001E072-47780
chr959770885977315E072-10466
chr959830925983180E072-4601
chr959831965983378E072-4403
chr959968785997164E0729097
chr959998685999926E07212087
chr960009396000989E07213158
chr960044186004458E07216637
chr960046666004766E07216885
chr960051076005168E07217326
chr960053336005450E07217552
chr960055826005633E07217801
chr960057166005793E07217935
chr960136486013698E07225867
chr960297626029922E07241981
chr959768435977015E073-10766
chr959770885977315E073-10466
chr960055826005633E07317801
chr960057166005793E07317935
chr960295786029670E07341797
chr960297626029922E07341981
chr959768435977015E074-10766
chr959770885977315E074-10466
chr959827255982775E074-5006
chr959830925983180E074-4601
chr959995395999589E07411758
chr960291266029176E07441345
chr960295786029670E07441797
chr960297626029922E07441981
chr960044186004458E08116637
chr960046666004766E08116885
chr960051076005168E08117326
chr960053336005450E08117552
chr960055826005633E08117801
chr960057166005793E08117935
chr960131156013155E08125334
chr960136486013698E08125867
chr959573065957482E082-30299
chr960044186004458E08216637
chr960046666004766E08216885
chr960051076005168E08217326
chr960053336005450E08217552
chr960117136011763E08223932
chr960131156013155E08225334










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr960067806009056E06718999
chr960146176016059E06726836
chr960161236016181E06728342
chr960162036016398E06728422
chr960067806009056E06818999
chr960146176016059E06826836
chr960161236016181E06828342
chr960162036016398E06828422
chr960067806009056E06918999
chr960146176016059E06926836
chr960161236016181E06928342
chr960067806009056E07018999
chr960146176016059E07026836
chr960161236016181E07028342
chr960067806009056E07118999
chr960146176016059E07126836
chr960161236016181E07128342
chr960067806009056E07218999
chr960146176016059E07226836
chr960161236016181E07228342
chr960067806009056E07318999
chr960146176016059E07326836
chr960161236016181E07328342
chr960162036016398E07328422
chr960067806009056E07418999
chr960146176016059E07426836
chr960161236016181E07428342
chr960162036016398E07428422
chr960067806009056E08118999
chr960146176016059E08126836
chr960067806009056E08218999
chr960146176016059E08226836
chr960161236016181E08228342
chr960162036016398E08228422