rs284235

Homo sapiens
C>T
PEX14 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0202 (6062/29930,GnomAD)
T=0224 (6525/29118,TOPMED)
T=0203 (1018/5008,1000G)
T=0114 (441/3854,ALSPAC)
T=0123 (457/3708,TWINSUK)
chr1:10618786 (GRCh38.p7) (1p36.22)
AD
GWASdb2
1   publication(s)
See rs on genome
100 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.10618786C>T
GRCh37.p13 chr 1NC_000001.10:g.10678843C>T
PEX14 RefSeqGeneNG_008340.1:g.148841C>T

Gene: PEX14, peroxisomal biogenesis factor 14(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PEX14 transcriptNM_004565.2:c.N/AIntron Variant
PEX14 transcript variant X5XM_005263470.4:c.N/AIntron Variant
PEX14 transcript variant X1XM_011541577.2:c.N/AIntron Variant
PEX14 transcript variant X2XM_011541578.2:c.N/AIntron Variant
PEX14 transcript variant X3XM_011541579.2:c.N/AIntron Variant
PEX14 transcript variant X4XM_011541580.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.604T=0.396
1000GenomesAmericanSub694C=0.860T=0.140
1000GenomesEast AsianSub1008C=0.942T=0.058
1000GenomesEuropeSub1006C=0.849T=0.151
1000GenomesGlobalStudy-wide5008C=0.797T=0.203
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.886T=0.114
The Genome Aggregation DatabaseAfricanSub8708C=0.664T=0.336
The Genome Aggregation DatabaseAmericanSub838C=0.870T=0.130
The Genome Aggregation DatabaseEast AsianSub1618C=0.911T=0.089
The Genome Aggregation DatabaseEuropeSub18464C=0.846T=0.153
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.797T=0.202
The Genome Aggregation DatabaseOtherSub302C=0.810T=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.775T=0.224
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.877T=0.123
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs2842357.11E-06alcohol dependence (age at onset)24962325

eQTL of rs284235 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 rs284235 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 )
chr11067461810674691E067-4152
chr11067608010676130E067-2713
chr11067619010676279E067-2564
chr11072338710724295E06744544
chr11072598910726476E06747146
chr11065812210658519E068-20324
chr11067461810674691E068-4152
chr11072338710724295E06844544
chr11067461810674691E069-4152
chr11067608010676130E069-2713
chr11067619010676279E069-2564
chr11072338710724295E06944544
chr11072562610725944E06946783
chr11072598910726476E06947146
chr11063968210639816E070-39027
chr11065728510657517E070-21326
chr11065763610657777E070-21066
chr11065780210657902E070-20941
chr11065812210658519E070-20324
chr11065852110658674E070-20169
chr11065881910658900E070-19943
chr11065928610659975E070-18868
chr11067543510675632E070-3211
chr11067608010676130E070-2713
chr11067619010676279E070-2564
chr11067638310676433E070-2410
chr11068374510683802E0704902
chr11069205910692263E07013216
chr11069249110692700E07013648
chr11069286910693116E07014026
chr11069464510695194E07015802
chr11069524210696319E07016399
chr11069989010700675E07021047
chr11070071810700866E07021875
chr11070091210701033E07022069
chr11070108510701135E07022242
chr11070135910701479E07022516
chr11070876610708816E07029923
chr11071152910711737E07032686
chr11071185510712174E07033012
chr11072300710723313E07044164
chr11072338710724295E07044544
chr11072444110724697E07045598
chr11065812210658519E071-20324
chr11065852110658674E071-20169
chr11067417310674224E071-4619
chr11067461810674691E071-4152
chr11067543510675632E071-3211
chr11067608010676130E071-2713
chr11067619010676279E071-2564
chr11069464510695194E07115802
chr11069524210696319E07116399
chr11070071810700866E07121875
chr11070091210701033E07122069
chr11070108510701135E07122242
chr11072300710723313E07144164
chr11072338710724295E07144544
chr11072562610725944E07146783
chr11072598910726476E07147146
chr11065812210658519E072-20324
chr11067461810674691E072-4152
chr11067608010676130E072-2713
chr11067619010676279E072-2564
chr11072300710723313E07244164
chr11072338710724295E07244544
chr11072444110724697E07245598
chr11072562610725944E07246783
chr11072598910726476E07247146
chr11065812210658519E073-20324
chr11069464510695194E07315802
chr11072300710723313E07344164
chr11072338710724295E07344544
chr11065812210658519E074-20324
chr11067461810674691E074-4152
chr11072338710724295E07444544
chr11072562610725944E07446783
chr11072598910726476E07447146
chr11072648710726755E07447644
chr11067253610673120E081-5723
chr11067543510675632E081-3211
chr11067608010676130E081-2713
chr11067619010676279E081-2564
chr11067638310676433E081-2410
chr11069524210696319E08116399
chr11069989010700675E08121047
chr11070071810700866E08121875
chr11070091210701033E08122069
chr11071152910711737E08132686
chr11071185510712174E08133012
chr11072258310722820E08143740
chr11072289210722989E08144049
chr11072300710723313E08144164
chr11072338710724295E08144544
chr11072444110724697E08145598
chr11065223010652294E082-26549
chr11067543510675632E082-3211
chr11069464510695194E08215802
chr11069524210696319E08216399
chr11072338710724295E08244544
chr11072444110724697E08245598










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11069881310698918E07019970
chr11069897010699106E07020127
chr11069912910699276E07020286
chr11069830410698417E08219461
chr11069843710698582E08219594
chr11069861710698657E08219774
chr11069872510698803E08219882
chr11069881310698918E08219970
chr11069897010699106E08220127
chr11069912910699276E08220286