rs9324865

Homo sapiens
T>C
NDFIP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0194 (5815/29850,GnomAD)
T==0197 (5737/29118,TOPMED)
T==0185 (926/5008,1000G)
T==0225 (868/3854,ALSPAC)
T==0214 (794/3708,TWINSUK)
chr5:142109227 (GRCh38.p7) (5q31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
133 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.142109227T>C
GRCh37.p13 chr 5NC_000005.9:g.141488792T>C

Gene: NDFIP1, Nedd4 family interacting protein 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NDFIP1 transcriptNM_030571.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.171C=0.829
1000GenomesAmericanSub694T=0.170C=0.830
1000GenomesEast AsianSub1008T=0.176C=0.824
1000GenomesEuropeSub1006T=0.210C=0.790
1000GenomesGlobalStudy-wide5008T=0.185C=0.815
1000GenomesSouth AsianSub978T=0.200C=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.225C=0.775
The Genome Aggregation DatabaseAfricanSub8678T=0.185C=0.815
The Genome Aggregation DatabaseAmericanSub834T=0.170C=0.830
The Genome Aggregation DatabaseEast AsianSub1614T=0.164C=0.836
The Genome Aggregation DatabaseEuropeSub18422T=0.204C=0.795
The Genome Aggregation DatabaseGlobalStudy-wide29850T=0.194C=0.805
The Genome Aggregation DatabaseOtherSub302T=0.150C=0.850
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.197C=0.803
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.214C=0.786
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs93248650.000115alcohol dependence20201924

eQTL of rs9324865 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 rs9324865 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 )
chr5141439025141439101E067-49691
chr5141439173141439403E067-49389
chr5141443042141444398E067-44394
chr5141444944141445180E067-43612
chr5141445870141445960E067-42832
chr5141446082141446272E067-42520
chr5141487642141487707E067-1085
chr5141500239141500327E06711447
chr5141500451141500501E06711659
chr5141507676141507760E06718884
chr5141508433141508671E06719641
chr5141524844141525300E06736052
chr5141525374141525437E06736582
chr5141439025141439101E068-49691
chr5141439173141439403E068-49389
chr5141444944141445180E068-43612
chr5141458891141459383E068-29409
chr5141459914141460023E068-28769
chr5141494472141494553E0685680
chr5141495582141495765E0686790
chr5141495983141496059E0687191
chr5141508433141508671E06819641
chr5141508902141508952E06820110
chr5141524844141525300E06836052
chr5141525374141525437E06836582
chr5141438810141438864E069-49928
chr5141439025141439101E069-49691
chr5141439173141439403E069-49389
chr5141442182141442361E069-46431
chr5141445870141445960E069-42832
chr5141446082141446272E069-42520
chr5141487642141487707E069-1085
chr5141492438141492491E0693646
chr5141492653141492760E0693861
chr5141494472141494553E0695680
chr5141497314141497741E0698522
chr5141499989141500071E06911197
chr5141500239141500327E06911447
chr5141500451141500501E06911659
chr5141501853141501920E06913061
chr5141507676141507760E06918884
chr5141508902141508952E06920110
chr5141524844141525300E06936052
chr5141536434141536602E06947642
chr5141536645141536984E06947853
chr5141442182141442361E070-46431
chr5141444944141445180E070-43612
chr5141445870141445960E070-42832
chr5141446082141446272E070-42520
chr5141457914141458108E070-30684
chr5141458197141458281E070-30511
chr5141458891141459383E070-29409
chr5141459546141459596E070-29196
chr5141459848141459900E070-28892
chr5141459914141460023E070-28769
chr5141500451141500501E07011659
chr5141439173141439403E071-49389
chr5141442182141442361E071-46431
chr5141444944141445180E071-43612
chr5141487642141487707E071-1085
chr5141495582141495765E0716790
chr5141497314141497741E0718522
chr5141497905141497989E0719113
chr5141498114141498323E0719322
chr5141500239141500327E07111447
chr5141500451141500501E07111659
chr5141501853141501920E07113061
chr5141506900141507129E07118108
chr5141507676141507760E07118884
chr5141508433141508671E07119641
chr5141536434141536602E07147642
chr5141536645141536984E07147853
chr5141439025141439101E072-49691
chr5141439173141439403E072-49389
chr5141442182141442361E072-46431
chr5141445870141445960E072-42832
chr5141446082141446272E072-42520
chr5141487642141487707E072-1085
chr5141495582141495765E0726790
chr5141497905141497989E0729113
chr5141498114141498323E0729322
chr5141498690141498908E0729898
chr5141506900141507129E07218108
chr5141507676141507760E07218884
chr5141508902141508952E07220110
chr5141536434141536602E07247642
chr5141536645141536984E07247853
chr5141445870141445960E073-42832
chr5141446082141446272E073-42520
chr5141494472141494553E0735680
chr5141495582141495765E0736790
chr5141495983141496059E0737191
chr5141498114141498323E0739322
chr5141498690141498908E0739898
chr5141500239141500327E07311447
chr5141500451141500501E07311659
chr5141506900141507129E07318108
chr5141507676141507760E07318884
chr5141508902141508952E07320110
chr5141443042141444398E074-44394
chr5141444944141445180E074-43612
chr5141487642141487707E074-1085
chr5141494472141494553E0745680
chr5141497314141497741E0748522
chr5141497905141497989E0749113
chr5141498114141498323E0749322
chr5141498690141498908E0749898
chr5141506900141507129E07418108
chr5141507676141507760E07418884
chr5141508433141508671E07419641
chr5141508902141508952E07420110
chr5141525374141525437E07436582
chr5141525797141525946E07437005
chr5141443042141444398E081-44394
chr5141444944141445180E081-43612
chr5141445870141445960E081-42832
chr5141446082141446272E081-42520
chr5141458197141458281E081-30511
chr5141458891141459383E081-29409
chr5141486750141486865E081-1927
chr5141487055141487620E081-1172
chr5141487642141487707E081-1085
chr5141532042141532287E08143250
chr5141535529141535624E08146737
chr5141536434141536602E08147642
chr5141536645141536984E08147853
chr5141444944141445180E082-43612
chr5141445870141445960E082-42832
chr5141446082141446272E082-42520
chr5141487055141487620E082-1172
chr5141507676141507760E08218884
chr5141536434141536602E08247642
chr5141536645141536984E08247853










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5141487834141490107E0670
chr5141487834141490107E0680
chr5141487834141490107E0690
chr5141487834141490107E0700
chr5141487834141490107E0710
chr5141487834141490107E0720
chr5141487834141490107E0730
chr5141487834141490107E0740
chr5141487834141490107E0810
chr5141487834141490107E0820