rs11121598

Homo sapiens
G>A
PEX14 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0080 (2419/29928,GnomAD)
A=0065 (1905/29118,TOPMED)
A=0068 (341/5008,1000G)
chr1:10598145 (GRCh38.p7) (1p36.22)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.10598145G>A
GRCh37.p13 chr 1NC_000001.10:g.10658202G>A
PEX14 RefSeqGeneNG_008340.1:g.128200G>A

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
1000GenomesAfricanSub1322G=0.994A=0.006
1000GenomesAmericanSub694G=0.940A=0.060
1000GenomesEast AsianSub1008G=0.999A=0.001
1000GenomesEuropeSub1006G=0.878A=0.122
1000GenomesGlobalStudy-wide5008G=0.932A=0.068
1000GenomesSouth AsianSub978G=0.830A=0.170
The Genome Aggregation DatabaseAfricanSub8724G=0.982A=0.018
The Genome Aggregation DatabaseAmericanSub838G=0.930A=0.070
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18444G=0.883A=0.116
The Genome Aggregation DatabaseGlobalStudy-wide29928G=0.919A=0.080
The Genome Aggregation DatabaseOtherSub300G=0.820A=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.934A=0.065
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
rs111215983.76E-06alcohol dependence (age at onset)24962325

eQTL of rs11121598 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 rs11121598 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 )
chr11067461810674691E06716416
chr11067608010676130E06717878
chr11067619010676279E06717988
chr11061974410619845E068-38357
chr11065812210658519E0680
chr11067461810674691E06816416
chr11060834310608589E069-49613
chr11067461810674691E06916416
chr11067608010676130E06917878
chr11067619010676279E06917988
chr11063968210639816E070-18386
chr11065728510657517E070-685
chr11065763610657777E070-425
chr11065780210657902E070-300
chr11065812210658519E0700
chr11065852110658674E070319
chr11065881910658900E070617
chr11065928610659975E0701084
chr11067543510675632E07017233
chr11067608010676130E07017878
chr11067619010676279E07017988
chr11067638310676433E07018181
chr11068374510683802E07025543
chr11069205910692263E07033857
chr11069249110692700E07034289
chr11069286910693116E07034667
chr11069464510695194E07036443
chr11069524210696319E07037040
chr11069989010700675E07041688
chr11070071810700866E07042516
chr11070091210701033E07042710
chr11070108510701135E07042883
chr11070135910701479E07043157
chr11061954010619590E071-38612
chr11061974410619845E071-38357
chr11065812210658519E0710
chr11065852110658674E071319
chr11067417310674224E07115971
chr11067461810674691E07116416
chr11067543510675632E07117233
chr11067608010676130E07117878
chr11067619010676279E07117988
chr11069464510695194E07136443
chr11069524210696319E07137040
chr11070071810700866E07142516
chr11070091210701033E07142710
chr11070108510701135E07142883
chr11061567610616715E072-41487
chr11061954010619590E072-38612
chr11061974410619845E072-38357
chr11065812210658519E0720
chr11067461810674691E07216416
chr11067608010676130E07217878
chr11067619010676279E07217988
chr11065812210658519E0730
chr11069464510695194E07336443
chr11061974410619845E074-38357
chr11065812210658519E0740
chr11067461810674691E07416416
chr11067253610673120E08114334
chr11067543510675632E08117233
chr11067608010676130E08117878
chr11067619010676279E08117988
chr11067638310676433E08118181
chr11069524210696319E08137040
chr11069989010700675E08141688
chr11070071810700866E08142516
chr11070091210701033E08142710
chr11061555210615650E082-42552
chr11061567610616715E082-41487
chr11065223010652294E082-5908
chr11067543510675632E08217233
chr11069464510695194E08236443
chr11069524210696319E08237040










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11069881310698918E07040611
chr11069897010699106E07040768
chr11069912910699276E07040927
chr11069830410698417E08240102
chr11069843710698582E08240235
chr11069861710698657E08240415
chr11069872510698803E08240523
chr11069881310698918E08240611
chr11069897010699106E08240768
chr11069912910699276E08240927