rs4912622

Homo sapiens
G>A
NDFIP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0329 (9828/29868,GnomAD)
G==0311 (9065/29118,TOPMED)
G==0335 (1680/5008,1000G)
G==0388 (1495/3854,ALSPAC)
G==0382 (1415/3708,TWINSUK)
chr5:142111022 (GRCh38.p7) (5q31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
123 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.142111022G>A
GRCh37.p13 chr 5NC_000005.9:g.141490587G>A

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
1000GenomesAfricanSub1322G=0.197A=0.803
1000GenomesAmericanSub694G=0.310A=0.690
1000GenomesEast AsianSub1008G=0.367A=0.633
1000GenomesEuropeSub1006G=0.380A=0.620
1000GenomesGlobalStudy-wide5008G=0.335A=0.665
1000GenomesSouth AsianSub978G=0.460A=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.388A=0.612
The Genome Aggregation DatabaseAfricanSub8692G=0.234A=0.766
The Genome Aggregation DatabaseAmericanSub834G=0.310A=0.690
The Genome Aggregation DatabaseEast AsianSub1604G=0.350A=0.650
The Genome Aggregation DatabaseEuropeSub18436G=0.373A=0.626
The Genome Aggregation DatabaseGlobalStudy-wide29868G=0.329A=0.671
The Genome Aggregation DatabaseOtherSub302G=0.280A=0.720
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.311A=0.688
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.382A=0.618
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
rs49126220.000485alcohol dependence20201924

eQTL of rs4912622 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 rs4912622 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 )
chr5141443042141444398E067-46189
chr5141444944141445180E067-45407
chr5141445870141445960E067-44627
chr5141446082141446272E067-44315
chr5141487642141487707E067-2880
chr5141500239141500327E0679652
chr5141500451141500501E0679864
chr5141507676141507760E06717089
chr5141508433141508671E06717846
chr5141524844141525300E06734257
chr5141525374141525437E06734787
chr5141444944141445180E068-45407
chr5141458891141459383E068-31204
chr5141459914141460023E068-30564
chr5141494472141494553E0683885
chr5141495582141495765E0684995
chr5141495983141496059E0685396
chr5141508433141508671E06817846
chr5141508902141508952E06818315
chr5141524844141525300E06834257
chr5141525374141525437E06834787
chr5141442182141442361E069-48226
chr5141445870141445960E069-44627
chr5141446082141446272E069-44315
chr5141487642141487707E069-2880
chr5141492438141492491E0691851
chr5141492653141492760E0692066
chr5141494472141494553E0693885
chr5141497314141497741E0696727
chr5141499989141500071E0699402
chr5141500239141500327E0699652
chr5141500451141500501E0699864
chr5141501853141501920E06911266
chr5141507676141507760E06917089
chr5141508902141508952E06918315
chr5141524844141525300E06934257
chr5141536434141536602E06945847
chr5141536645141536984E06946058
chr5141442182141442361E070-48226
chr5141444944141445180E070-45407
chr5141445870141445960E070-44627
chr5141446082141446272E070-44315
chr5141457914141458108E070-32479
chr5141458197141458281E070-32306
chr5141458891141459383E070-31204
chr5141459546141459596E070-30991
chr5141459848141459900E070-30687
chr5141459914141460023E070-30564
chr5141500451141500501E0709864
chr5141442182141442361E071-48226
chr5141444944141445180E071-45407
chr5141487642141487707E071-2880
chr5141495582141495765E0714995
chr5141497314141497741E0716727
chr5141497905141497989E0717318
chr5141498114141498323E0717527
chr5141500239141500327E0719652
chr5141500451141500501E0719864
chr5141501853141501920E07111266
chr5141506900141507129E07116313
chr5141507676141507760E07117089
chr5141508433141508671E07117846
chr5141536434141536602E07145847
chr5141536645141536984E07146058
chr5141442182141442361E072-48226
chr5141445870141445960E072-44627
chr5141446082141446272E072-44315
chr5141487642141487707E072-2880
chr5141495582141495765E0724995
chr5141497905141497989E0727318
chr5141498114141498323E0727527
chr5141498690141498908E0728103
chr5141506900141507129E07216313
chr5141507676141507760E07217089
chr5141508902141508952E07218315
chr5141536434141536602E07245847
chr5141536645141536984E07246058
chr5141445870141445960E073-44627
chr5141446082141446272E073-44315
chr5141494472141494553E0733885
chr5141495582141495765E0734995
chr5141495983141496059E0735396
chr5141498114141498323E0737527
chr5141498690141498908E0738103
chr5141500239141500327E0739652
chr5141500451141500501E0739864
chr5141506900141507129E07316313
chr5141507676141507760E07317089
chr5141508902141508952E07318315
chr5141443042141444398E074-46189
chr5141444944141445180E074-45407
chr5141487642141487707E074-2880
chr5141494472141494553E0743885
chr5141497314141497741E0746727
chr5141497905141497989E0747318
chr5141498114141498323E0747527
chr5141498690141498908E0748103
chr5141506900141507129E07416313
chr5141507676141507760E07417089
chr5141508433141508671E07417846
chr5141508902141508952E07418315
chr5141525374141525437E07434787
chr5141525797141525946E07435210
chr5141443042141444398E081-46189
chr5141444944141445180E081-45407
chr5141445870141445960E081-44627
chr5141446082141446272E081-44315
chr5141458197141458281E081-32306
chr5141458891141459383E081-31204
chr5141486750141486865E081-3722
chr5141487055141487620E081-2967
chr5141487642141487707E081-2880
chr5141532042141532287E08141455
chr5141535529141535624E08144942
chr5141536434141536602E08145847
chr5141536645141536984E08146058
chr5141444944141445180E082-45407
chr5141445870141445960E082-44627
chr5141446082141446272E082-44315
chr5141487055141487620E082-2967
chr5141507676141507760E08217089
chr5141536434141536602E08245847
chr5141536645141536984E08246058










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5141487834141490107E067-480
chr5141487834141490107E068-480
chr5141487834141490107E069-480
chr5141487834141490107E070-480
chr5141487834141490107E071-480
chr5141487834141490107E072-480
chr5141487834141490107E073-480
chr5141487834141490107E074-480
chr5141487834141490107E081-480
chr5141487834141490107E082-480