rs4321970

Homo sapiens
T>A
NDUFAF6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0298 (8908/29864,GnomAD)
T==0276 (8044/29118,TOPMED)
T==0206 (1033/5008,1000G)
T==0407 (1568/3854,ALSPAC)
T==0396 (1469/3708,TWINSUK)
chr8:95093632 (GRCh38.p7) (8q22.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
124 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.95093632T>A
GRCh37.p13 chr 8NC_000008.10:g.96105860T>A

Gene: NDUFAF6, NADH:ubiquinone oxidoreductase complex assembly factor 6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NDUFAF6 transcript variant 1NM_152416.3:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X16XM_005250789.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X20XM_005250790.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X23XM_005250791.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X17XM_005250792.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X26XM_005250793.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X1XM_011516833.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X2XM_011516834.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X3XM_011516835.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X5XM_011516836.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X6XM_011516837.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X7XM_011516838.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X9XM_011516839.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X10XM_011516840.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X11XM_011516841.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X13XM_011516842.2:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X5XM_017013027.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X8XM_017013028.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X12XM_017013029.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X14XM_017013030.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X17XM_017013031.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X18XM_017013032.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X19XM_017013033.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X15XM_017013034.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X24XM_017013035.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X25XM_017013036.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X27XM_017013037.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X28XM_017013038.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X29XM_017013039.1:c.N/AGenic Downstream Transcript Variant
NDUFAF6 transcript variant X1XR_001745473.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.167A=0.833
1000GenomesAmericanSub694T=0.200A=0.800
1000GenomesEast AsianSub1008T=0.115A=0.885
1000GenomesEuropeSub1006T=0.388A=0.612
1000GenomesGlobalStudy-wide5008T=0.206A=0.794
1000GenomesSouth AsianSub978T=0.170A=0.830
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.407A=0.593
The Genome Aggregation DatabaseAfricanSub8710T=0.191A=0.809
The Genome Aggregation DatabaseAmericanSub832T=0.200A=0.800
The Genome Aggregation DatabaseEast AsianSub1612T=0.098A=0.902
The Genome Aggregation DatabaseEuropeSub18408T=0.370A=0.629
The Genome Aggregation DatabaseGlobalStudy-wide29864T=0.298A=0.701
The Genome Aggregation DatabaseOtherSub302T=0.340A=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.276A=0.723
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.396A=0.604
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs43219708E-06alcohol dependence29460428

eQTL of rs4321970 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 rs4321970 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 )
chr89608063996080736E067-25124
chr89608088596081023E067-24837
chr89608118896081546E067-24314
chr89608724596087380E067-18480
chr89608738796087462E067-18398
chr89608749896087565E067-18295
chr89608762596087685E067-18175
chr89608773696087785E067-18075
chr89608787996088094E067-17766
chr89611676096117729E06710900
chr89614822596148541E06742365
chr89614962396150529E06743763
chr89615230796152500E06746447
chr89607963396080235E068-25625
chr89608063996080736E068-25124
chr89608088596081023E068-24837
chr89608118896081546E068-24314
chr89608639296087127E068-18733
chr89608724596087380E068-18480
chr89608738796087462E068-18398
chr89608749896087565E068-18295
chr89608762596087685E068-18175
chr89608773696087785E068-18075
chr89608787996088094E068-17766
chr89608809596088292E068-17568
chr89611195296114201E0686092
chr89611588896116077E06810028
chr89611676096117729E06810900
chr89612452296124728E06818662
chr89612474996125411E06818889
chr89614451296144843E06838652
chr89614822596148541E06842365
chr89614862296148672E06842762
chr89614906696149483E06843206
chr89614962396150529E06843763
chr89615204196152245E06846181
chr89615230796152500E06846447
chr89607963396080235E069-25625
chr89608063996080736E069-25124
chr89608088596081023E069-24837
chr89608118896081546E069-24314
chr89608639296087127E069-18733
chr89608724596087380E069-18480
chr89608738796087462E069-18398
chr89608749896087565E069-18295
chr89608762596087685E069-18175
chr89608773696087785E069-18075
chr89608787996088094E069-17766
chr89608809596088292E069-17568
chr89608830096088357E069-17503
chr89608852096088690E069-17170
chr89611195296114201E0696092
chr89614822596148541E06942365
chr89614862296148672E06942762
chr89614906696149483E06943206
chr89615230796152500E06946447
chr89615280296153018E06946942
chr89608118896081546E070-24314
chr89612474996125411E07018889
chr89612555196125648E07019691
chr89612567796125761E07019817
chr89612576496125933E07019904
chr89614862296148672E07042762
chr89614906696149483E07043206
chr89614962396150529E07043763
chr89607963396080235E071-25625
chr89608063996080736E071-25124
chr89608088596081023E071-24837
chr89608118896081546E071-24314
chr89608724596087380E071-18480
chr89608738796087462E071-18398
chr89608749896087565E071-18295
chr89608762596087685E071-18175
chr89608773696087785E071-18075
chr89608787996088094E071-17766
chr89608809596088292E071-17568
chr89608998996090066E071-15794
chr89609013196090171E071-15689
chr89611195296114201E0716092
chr89611676096117729E07110900
chr89614822596148541E07142365
chr89614862296148672E07142762
chr89614906696149483E07143206
chr89614962396150529E07143763
chr89615204196152245E07146181
chr89615230796152500E07146447
chr89608063996080736E072-25124
chr89608088596081023E072-24837
chr89608639296087127E072-18733
chr89608724596087380E072-18480
chr89608738796087462E072-18398
chr89608749896087565E072-18295
chr89608762596087685E072-18175
chr89608773696087785E072-18075
chr89608787996088094E072-17766
chr89611588896116077E07210028
chr89611676096117729E07210900
chr89614962396150529E07243763
chr89607963396080235E073-25625
chr89614962396150529E07343763
chr89615204196152245E07346181
chr89615230796152500E07346447
chr89607963396080235E074-25625
chr89608063996080736E074-25124
chr89608088596081023E074-24837
chr89608118896081546E074-24314
chr89608724596087380E074-18480
chr89608738796087462E074-18398
chr89608749896087565E074-18295
chr89608762596087685E074-18175
chr89608773696087785E074-18075
chr89608787996088094E074-17766
chr89608809596088292E074-17568
chr89611195296114201E0746092
chr89611676096117729E07410900
chr89614822596148541E07442365
chr89614862296148672E07442762
chr89614906696149483E07443206
chr89614962396150529E07443763
chr89614822596148541E08142365
chr89614862296148672E08142762
chr89614906696149483E08143206
chr89612474996125411E08218889
chr89614962396150529E08243763










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr89614497696147470E06739116
chr89614759996147649E06741739
chr89608494596086121E068-19739
chr89614497696147470E06839116
chr89614759996147649E06841739
chr89614497696147470E06939116
chr89614497696147470E07039116
chr89614759996147649E07041739
chr89608494596086121E071-19739
chr89614497696147470E07139116
chr89614759996147649E07141739
chr89614497696147470E07239116
chr89614759996147649E07241739
chr89614497696147470E07339116
chr89614759996147649E07341739
chr89614497696147470E07439116
chr89614759996147649E07441739
chr89614497696147470E08139116
chr89614497696147470E08239116
chr89614759996147649E08241739