rs994029

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0274 (8223/29956,GnomAD)
C==0260 (7595/29118,TOPMED)
C==0263 (1319/5008,1000G)
C==0372 (1433/3854,ALSPAC)
C==0376 (1396/3708,TWINSUK)
chr9:86760399 (GRCh38.p7) (9q21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
60 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.86760399C>T
GRCh37.p13 chr 9NC_000009.11:g.89375314C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.115T=0.885
1000GenomesAmericanSub694C=0.340T=0.660
1000GenomesEast AsianSub1008C=0.150T=0.850
1000GenomesEuropeSub1006C=0.377T=0.623
1000GenomesGlobalStudy-wide5008C=0.263T=0.737
1000GenomesSouth AsianSub978C=0.410T=0.590
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.372T=0.628
The Genome Aggregation DatabaseAfricanSub8722C=0.131T=0.869
The Genome Aggregation DatabaseAmericanSub836C=0.250T=0.750
The Genome Aggregation DatabaseEast AsianSub1622C=0.139T=0.861
The Genome Aggregation DatabaseEuropeSub18474C=0.352T=0.647
The Genome Aggregation DatabaseGlobalStudy-wide29956C=0.274T=0.725
The Genome Aggregation DatabaseOtherSub302C=0.440T=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.260T=0.739
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.376T=0.624
PMID Title Author Journal
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs9940291.98E-07alcohol dependence23691058

eQTL of rs994029 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 rs994029 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 )
chr98938170289382281E0676388
chr98938136989381610E0686055
chr98938170289382281E0686388
chr98938093889381331E0695624
chr98938136989381610E0696055
chr98938170289382281E0696388
chr98938234889382709E0697034
chr98935610189357291E070-18023
chr98935730489357559E070-17755
chr98935764089357871E070-17443
chr98935802389358082E070-17232
chr98936211489362280E070-13034
chr98936236489362504E070-12810
chr98936285689362906E070-12408
chr98936293989363043E070-12271
chr98936322889363288E070-12026
chr98936330089363371E070-11943
chr98936359189363681E070-11633
chr98936372389363770E070-11544
chr98936894489369121E070-6193
chr98936913889369197E070-6117
chr98936927289370772E070-4542
chr98940849189411516E07033177
chr98941276289412907E07037448
chr98941304389413087E07037729
chr98941344489413580E07038130
chr98941381789413907E07038503
chr98942232989423036E07047015
chr98938136989381610E0716055
chr98938170289382281E0716388
chr98938234889382709E0717034
chr98938030989380359E0744995
chr98938136989381610E0746055
chr98938170289382281E0746388
chr98936894489369121E081-6193
chr98936913889369197E081-6117
chr98936927289370772E081-4542
chr98937128489371350E081-3964
chr98940837189408421E08133057
chr98940849189411516E08133177
chr98941163989411967E08136325
chr98941199089412251E08136676
chr98942175889421825E08146444
chr98942203489422176E08146720
chr98942224389422306E08146929
chr98942232989423036E08147015
chr98942304289423132E08147728
chr98942317189423455E08147857
chr98942356389423613E08148249
chr98942453989425156E08149225
chr98935610189357291E082-18023
chr98935730489357559E082-17755
chr98936894489369121E082-6193
chr98936913889369197E082-6117
chr98936927289370772E082-4542
chr98941163989411967E08236325
chr98941199089412251E08236676
chr98942224389422306E08246929
chr98942232989423036E08247015
chr98942304289423132E08247728