rs6863411

Homo sapiens
A>T
NDFIP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0328 (9820/29938,GnomAD)
A==0308 (8988/29118,TOPMED)
A==0334 (1671/5008,1000G)
A==0387 (1492/3854,ALSPAC)
A==0381 (1414/3708,TWINSUK)
chr5:142133639 (GRCh38.p7) (5q31.3)
AD
GWASdb2
2   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.142133639A>T
GRCh37.p13 chr 5NC_000005.9:g.141513204A>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
1000GenomesAfricanSub1322A=0.194T=0.806
1000GenomesAmericanSub694A=0.310T=0.690
1000GenomesEast AsianSub1008A=0.363T=0.637
1000GenomesEuropeSub1006A=0.380T=0.620
1000GenomesGlobalStudy-wide5008A=0.334T=0.666
1000GenomesSouth AsianSub978A=0.460T=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.387T=0.613
The Genome Aggregation DatabaseAfricanSub8716A=0.231T=0.769
The Genome Aggregation DatabaseAmericanSub838A=0.310T=0.690
The Genome Aggregation DatabaseEast AsianSub1608A=0.349T=0.651
The Genome Aggregation DatabaseEuropeSub18474A=0.373T=0.626
The Genome Aggregation DatabaseGlobalStudy-wide29938A=0.328T=0.672
The Genome Aggregation DatabaseOtherSub302A=0.280T=0.720
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.308T=0.691
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.381T=0.619
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
27336838Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.Di Narzo AFClin Transl Gastroenterol

P-Value

SNP ID p-value Traits Study
rs68634110.000627alcohol dependence20201924

eQTL of rs6863411 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 rs6863411 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 )
chr5141487642141487707E067-25497
chr5141500239141500327E067-12877
chr5141500451141500501E067-12703
chr5141507676141507760E067-5444
chr5141508433141508671E067-4533
chr5141524844141525300E06711640
chr5141525374141525437E06712170
chr5141546384141546452E06733180
chr5141494472141494553E068-18651
chr5141495582141495765E068-17439
chr5141495983141496059E068-17145
chr5141508433141508671E068-4533
chr5141508902141508952E068-4252
chr5141524844141525300E06811640
chr5141525374141525437E06812170
chr5141487642141487707E069-25497
chr5141492438141492491E069-20713
chr5141492653141492760E069-20444
chr5141494472141494553E069-18651
chr5141497314141497741E069-15463
chr5141499989141500071E069-13133
chr5141500239141500327E069-12877
chr5141500451141500501E069-12703
chr5141501853141501920E069-11284
chr5141507676141507760E069-5444
chr5141508902141508952E069-4252
chr5141524844141525300E06911640
chr5141536434141536602E06923230
chr5141536645141536984E06923441
chr5141546384141546452E06933180
chr5141500451141500501E070-12703
chr5141487642141487707E071-25497
chr5141495582141495765E071-17439
chr5141497314141497741E071-15463
chr5141497905141497989E071-15215
chr5141498114141498323E071-14881
chr5141500239141500327E071-12877
chr5141500451141500501E071-12703
chr5141501853141501920E071-11284
chr5141506900141507129E071-6075
chr5141507676141507760E071-5444
chr5141508433141508671E071-4533
chr5141536434141536602E07123230
chr5141536645141536984E07123441
chr5141546384141546452E07133180
chr5141487642141487707E072-25497
chr5141495582141495765E072-17439
chr5141497905141497989E072-15215
chr5141498114141498323E072-14881
chr5141498690141498908E072-14296
chr5141506900141507129E072-6075
chr5141507676141507760E072-5444
chr5141508902141508952E072-4252
chr5141536434141536602E07223230
chr5141536645141536984E07223441
chr5141546384141546452E07233180
chr5141494472141494553E073-18651
chr5141495582141495765E073-17439
chr5141495983141496059E073-17145
chr5141498114141498323E073-14881
chr5141498690141498908E073-14296
chr5141500239141500327E073-12877
chr5141500451141500501E073-12703
chr5141506900141507129E073-6075
chr5141507676141507760E073-5444
chr5141508902141508952E073-4252
chr5141487642141487707E074-25497
chr5141494472141494553E074-18651
chr5141497314141497741E074-15463
chr5141497905141497989E074-15215
chr5141498114141498323E074-14881
chr5141498690141498908E074-14296
chr5141506900141507129E074-6075
chr5141507676141507760E074-5444
chr5141508433141508671E074-4533
chr5141508902141508952E074-4252
chr5141525374141525437E07412170
chr5141525797141525946E07412593
chr5141546384141546452E07433180
chr5141486750141486865E081-26339
chr5141487055141487620E081-25584
chr5141487642141487707E081-25497
chr5141532042141532287E08118838
chr5141535529141535624E08122325
chr5141536434141536602E08123230
chr5141536645141536984E08123441
chr5141548955141549526E08135751
chr5141487055141487620E082-25584
chr5141507676141507760E082-5444
chr5141536434141536602E08223230
chr5141536645141536984E08223441
chr5141540701141540800E08227497
chr5141540875141541088E08227671










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5141487834141490107E067-23097
chr5141487834141490107E068-23097
chr5141487834141490107E069-23097
chr5141487834141490107E070-23097
chr5141487834141490107E071-23097
chr5141487834141490107E072-23097
chr5141487834141490107E073-23097
chr5141487834141490107E074-23097
chr5141487834141490107E081-23097
chr5141487834141490107E082-23097