rs12518892

Homo sapiens
A>G
SKIV2L2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0056 (1679/29990,GnomAD)
G=0071 (2078/29118,TOPMED)
G=0089 (446/5008,1000G)
G=0018 (70/3854,ALSPAC)
G=0017 (62/3708,TWINSUK)
chr5:55404055 (GRCh38.p7) (5q11.2)
ND
GWASdb2
1   publication(s)
See rs on genome
145 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.55404055A>G
GRCh37.p13 chr 5NC_000005.9:g.54699883A>G

Gene: SKIV2L2, Ski2 like RNA helicase 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MTREX transcriptNM_015360.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.859G=0.141
1000GenomesAmericanSub694A=0.860G=0.140
1000GenomesEast AsianSub1008A=0.944G=0.056
1000GenomesEuropeSub1006A=0.988G=0.012
1000GenomesGlobalStudy-wide5008A=0.911G=0.089
1000GenomesSouth AsianSub978A=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.982G=0.018
The Genome Aggregation DatabaseAfricanSub8730A=0.875G=0.125
The Genome Aggregation DatabaseAmericanSub838A=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1620A=0.937G=0.063
The Genome Aggregation DatabaseEuropeSub18500A=0.980G=0.019
The Genome Aggregation DatabaseGlobalStudy-wide29990A=0.944G=0.056
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.928G=0.071
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.983G=0.017
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs125188922.53E-05alcohol and nictotine co-dependence20158304

eQTL of rs12518892 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 rs12518892 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 )
chr55471226554712399E06712382
chr55471250454712591E06712621
chr55471685654717150E06716973
chr55471799954718067E06718116
chr55471822254718262E06718339
chr55471834554718439E06718462
chr55472253654722637E06722653
chr55472302654723450E06723143
chr55472359054723634E06723707
chr55472422054724327E06724337
chr55472529454725879E06725411
chr55472590854725964E06726025
chr55472603754726087E06726154
chr55473344954733691E06733566
chr55473382054734531E06733937
chr55473478054735260E06734897
chr55473604554736416E06736162
chr55473706954737189E06737186
chr55473722754737625E06737344
chr55473768754737759E06737804
chr55473781354738109E06737930
chr55474092854741002E06741045
chr55471226554712399E06812382
chr55471822254718262E06818339
chr55471834554718439E06818462
chr55472302654723450E06823143
chr55472529454725879E06825411
chr55472590854725964E06826025
chr55472603754726087E06826154
chr55473281354732912E06832930
chr55473344954733691E06833566
chr55473382054734531E06833937
chr55473478054735260E06834897
chr55473604554736416E06836162
chr55473706954737189E06837186
chr55473722754737625E06837344
chr55473768754737759E06837804
chr55473869854738756E06838815
chr55473880654738993E06838923
chr55474597654746465E06846093
chr55474654754746710E06846664
chr55474921554749397E06849332
chr55471250454712591E06912621
chr55471342954713479E06913546
chr55472253654722637E06922653
chr55472302654723450E06923143
chr55472478154724854E06924898
chr55472529454725879E06925411
chr55472590854725964E06926025
chr55472603754726087E06926154
chr55473281354732912E06932930
chr55473344954733691E06933566
chr55473382054734531E06933937
chr55473478054735260E06934897
chr55473604554736416E06936162
chr55473706954737189E06937186
chr55473722754737625E06937344
chr55473768754737759E06937804
chr55473869854738756E06938815
chr55473880654738993E06938923
chr55473950254739879E06939619
chr55474004754740101E06940164
chr55474092854741002E06941045
chr55473382054734531E07033937
chr55471226554712399E07112382
chr55471250454712591E07112621
chr55471540054715795E07115517
chr55471799954718067E07118116
chr55472253654722637E07122653
chr55472302654723450E07123143
chr55472359054723634E07123707
chr55472529454725879E07125411
chr55472590854725964E07126025
chr55472603754726087E07126154
chr55473281354732912E07132930
chr55473344954733691E07133566
chr55473382054734531E07133937
chr55473478054735260E07134897
chr55473604554736416E07136162
chr55473706954737189E07137186
chr55473722754737625E07137344
chr55473768754737759E07137804
chr55473950254739879E07139619
chr55474004754740101E07140164
chr55474092854741002E07141045
chr55471226554712399E07212382
chr55471250454712591E07212621
chr55471342954713479E07213546
chr55471799954718067E07218116
chr55471822254718262E07218339
chr55471834554718439E07218462
chr55471869454718793E07218811
chr55471935854719494E07219475
chr55472253654722637E07222653
chr55472302654723450E07223143
chr55472359054723634E07223707
chr55472422054724327E07224337
chr55472478154724854E07224898
chr55472529454725879E07225411
chr55472590854725964E07226025
chr55472603754726087E07226154
chr55473281354732912E07232930
chr55473344954733691E07233566
chr55473382054734531E07233937
chr55473478054735260E07234897
chr55473604554736416E07236162
chr55473706954737189E07237186
chr55473722754737625E07237344
chr55473768754737759E07237804
chr55473781354738109E07237930
chr55473880654738993E07238923
chr55473950254739879E07239619
chr55474004754740101E07240164
chr55472529454725879E07325411
chr55472590854725964E07326025
chr55472603754726087E07326154
chr55473281354732912E07332930
chr55473344954733691E07333566
chr55473382054734531E07333937
chr55473604554736416E07336162
chr55473706954737189E07337186
chr55473722754737625E07337344
chr55473768754737759E07337804
chr55473781354738109E07337930
chr55473950254739879E07339619
chr55474004754740101E07340164
chr55471685654717150E07416973
chr55471799954718067E07418116
chr55471822254718262E07418339
chr55471834554718439E07418462
chr55472302654723450E07423143
chr55472478154724854E07424898
chr55472529454725879E07425411
chr55472603754726087E07426154
chr55473063854730732E07430755
chr55473344954733691E07433566
chr55473382054734531E07433937
chr55473478054735260E07434897
chr55473604554736416E07436162
chr55473706954737189E07437186
chr55473722754737625E07437344
chr55473768754737759E07437804
chr55473781354738109E07437930
chr55473869854738756E07438815
chr55473880654738993E07438923