rs7133992

Homo sapiens
A>G
NDUFA12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0205 (6127/29892,GnomAD)
A==0226 (6604/29118,TOPMED)
A==0218 (1090/5008,1000G)
A==0238 (918/3854,ALSPAC)
A==0236 (876/3708,TWINSUK)
chr12:94987926 (GRCh38.p7) (12q22)
ND
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.94987926A>G
GRCh37.p13 chr 12NC_000012.11:g.95381702A>G
NDUFA12 RefSeqGeneNG_032672.1:g.20788T>C

Gene: NDUFA12, NADH:ubiquinone oxidoreductase subunit A12(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NDUFA12 transcript variant 2NM_001258338.1:c.N/AIntron Variant
NDUFA12 transcript variant 1NM_018838.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.166G=0.834
1000GenomesAmericanSub694A=0.250G=0.750
1000GenomesEast AsianSub1008A=0.299G=0.701
1000GenomesEuropeSub1006A=0.188G=0.812
1000GenomesGlobalStudy-wide5008A=0.218G=0.782
1000GenomesSouth AsianSub978A=0.210G=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.238G=0.762
The Genome Aggregation DatabaseAfricanSub8706A=0.162G=0.838
The Genome Aggregation DatabaseAmericanSub838A=0.240G=0.760
The Genome Aggregation DatabaseEast AsianSub1610A=0.289G=0.711
The Genome Aggregation DatabaseEuropeSub18436A=0.216G=0.783
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.205G=0.795
The Genome Aggregation DatabaseOtherSub302A=0.170G=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.226G=0.773
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.236G=0.764
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs71339920.000426nicotine smoking19268276

eQTL of rs7133992 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 rs7133992 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 )
chr129533497595335898E067-45804
chr129533479895334949E068-46753
chr129533497595335898E068-45804
chr129533479895334949E070-46753
chr129533497595335898E070-45804
chr129533589995336035E070-45667
chr129539483995394893E07013137
chr129539483995394893E07213137
chr129536215895362234E073-19468
chr129533479895334949E074-46753
chr129533497595335898E074-45804
chr129539483995394893E08113137
chr129539498195395031E08113279







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr129539660195398154E06714899
chr129539660195398154E06814899
chr129539660195398154E06914899
chr129539660195398154E07014899
chr129539660195398154E07114899
chr129539660195398154E07214899
chr129539660195398154E07314899
chr129539660195398154E07414899
chr129539660195398154E08114899
chr129539660195398154E08214899