rs1062158

Homo sapiens
C>A / C>T
NDFIP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0327 (9777/29856,GnomAD)
C==0308 (8982/29118,TOPMED)
C==0334 (1672/5008,1000G)
C==0387 (1491/3854,ALSPAC)
C==0382 (1416/3708,TWINSUK)
chr5:142143435 (GRCh38.p7) (5q31.3)
AD
GWASdb2
3   publication(s)
See rs on genome
93 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.142143435C>A
GRCh38.p7 chr 5NC_000005.10:g.142143435C>T
GRCh37.p13 chr 5NC_000005.9:g.141523000C>A
GRCh37.p13 chr 5NC_000005.9:g.141523000C>T

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
1000GenomesAfricanSub1322C=0.194T=0.806
1000GenomesAmericanSub694C=0.310T=0.690
1000GenomesEast AsianSub1008C=0.364T=0.636
1000GenomesEuropeSub1006C=0.380T=0.620
1000GenomesGlobalStudy-wide5008C=0.334T=0.666
1000GenomesSouth AsianSub978C=0.460T=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.387T=0.613
The Genome Aggregation DatabaseAfricanSub8692C=0.229A=0.000
The Genome Aggregation DatabaseAmericanSub838C=0.310A=0.00,
The Genome Aggregation DatabaseEast AsianSub1616C=0.349A=0.000
The Genome Aggregation DatabaseEuropeSub18408C=0.373A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29856C=0.327A=0.000
The Genome Aggregation DatabaseOtherSub302C=0.280A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.308T=0.691
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.382T=0.618
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23094030Protein-protein interaction analysis highlights additional loci of interest for multiple sclerosis.Ragnedda GPLoS One
25308886Functional relevance for multiple sclerosis-associated genetic variants.Lin XImmunogenetics

P-Value

SNP ID p-value Traits Study
rs10621580.000537alcohol dependence20201924

eQTL of rs1062158 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 rs1062158 in Fetal Brain

Probe ID Position Gene beta p-value
cg07392085chr5:141489673NDFIP1-0.03329377211070961.1316e-10

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 )
chr5141487642141487707E067-27857
chr5141500239141500327E067-15237
chr5141500451141500501E067-15063
chr5141507676141507760E067-7804
chr5141508433141508671E067-6893
chr5141524844141525300E0679280
chr5141525374141525437E0679810
chr5141546384141546452E06730820
chr5141494472141494553E068-21011
chr5141495582141495765E068-19799
chr5141495983141496059E068-19505
chr5141508433141508671E068-6893
chr5141508902141508952E068-6612
chr5141524844141525300E0689280
chr5141525374141525437E0689810
chr5141487642141487707E069-27857
chr5141492438141492491E069-23073
chr5141492653141492760E069-22804
chr5141494472141494553E069-21011
chr5141497314141497741E069-17823
chr5141499989141500071E069-15493
chr5141500239141500327E069-15237
chr5141500451141500501E069-15063
chr5141501853141501920E069-13644
chr5141507676141507760E069-7804
chr5141508902141508952E069-6612
chr5141524844141525300E0699280
chr5141536434141536602E06920870
chr5141536645141536984E06921081
chr5141546384141546452E06930820
chr5141500451141500501E070-15063
chr5141487642141487707E071-27857
chr5141495582141495765E071-19799
chr5141497314141497741E071-17823
chr5141497905141497989E071-17575
chr5141498114141498323E071-17241
chr5141500239141500327E071-15237
chr5141500451141500501E071-15063
chr5141501853141501920E071-13644
chr5141506900141507129E071-8435
chr5141507676141507760E071-7804
chr5141508433141508671E071-6893
chr5141536434141536602E07120870
chr5141536645141536984E07121081
chr5141546384141546452E07130820
chr5141487642141487707E072-27857
chr5141495582141495765E072-19799
chr5141497905141497989E072-17575
chr5141498114141498323E072-17241
chr5141498690141498908E072-16656
chr5141506900141507129E072-8435
chr5141507676141507760E072-7804
chr5141508902141508952E072-6612
chr5141536434141536602E07220870
chr5141536645141536984E07221081
chr5141546384141546452E07230820
chr5141494472141494553E073-21011
chr5141495582141495765E073-19799
chr5141495983141496059E073-19505
chr5141498114141498323E073-17241
chr5141498690141498908E073-16656
chr5141500239141500327E073-15237
chr5141500451141500501E073-15063
chr5141506900141507129E073-8435
chr5141507676141507760E073-7804
chr5141508902141508952E073-6612
chr5141487642141487707E074-27857
chr5141494472141494553E074-21011
chr5141497314141497741E074-17823
chr5141497905141497989E074-17575
chr5141498114141498323E074-17241
chr5141498690141498908E074-16656
chr5141506900141507129E074-8435
chr5141507676141507760E074-7804
chr5141508433141508671E074-6893
chr5141508902141508952E074-6612
chr5141525374141525437E0749810
chr5141525797141525946E07410233
chr5141546384141546452E07430820
chr5141486750141486865E081-28699
chr5141487055141487620E081-27944
chr5141487642141487707E081-27857
chr5141532042141532287E08116478
chr5141535529141535624E08119965
chr5141536434141536602E08120870
chr5141536645141536984E08121081
chr5141548955141549526E08133391
chr5141487055141487620E082-27944
chr5141507676141507760E082-7804
chr5141536434141536602E08220870
chr5141536645141536984E08221081
chr5141540701141540800E08225137
chr5141540875141541088E08225311










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5141487834141490107E067-25457
chr5141487834141490107E068-25457
chr5141487834141490107E069-25457
chr5141487834141490107E070-25457
chr5141487834141490107E071-25457
chr5141487834141490107E072-25457
chr5141487834141490107E073-25457
chr5141487834141490107E074-25457
chr5141487834141490107E081-25457
chr5141487834141490107E082-25457