rs11107851

Homo sapiens
T>C
NDUFA12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0214 (6406/29936,GnomAD)
C=0180 (5251/29118,TOPMED)
C=0242 (1212/5008,1000G)
C=0222 (856/3854,ALSPAC)
C=0240 (890/3708,TWINSUK)
chr12:94995067 (GRCh38.p7) (12q22)
ND
GWASdb2
2   publication(s)
See rs on genome
6 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.94995067T>C
GRCh37.p13 chr 12NC_000012.11:g.95388843T>C
NDUFA12 RefSeqGeneNG_032672.1:g.13647A>G

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
1000GenomesAfricanSub1322T=0.889C=0.111
1000GenomesAmericanSub694T=0.700C=0.300
1000GenomesEast AsianSub1008T=0.583C=0.417
1000GenomesEuropeSub1006T=0.764C=0.236
1000GenomesGlobalStudy-wide5008T=0.758C=0.242
1000GenomesSouth AsianSub978T=0.800C=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.778C=0.222
The Genome Aggregation DatabaseAfricanSub8708T=0.861C=0.139
The Genome Aggregation DatabaseAmericanSub834T=0.690C=0.310
The Genome Aggregation DatabaseEast AsianSub1616T=0.581C=0.419
The Genome Aggregation DatabaseEuropeSub18478T=0.773C=0.226
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.786C=0.214
The Genome Aggregation DatabaseOtherSub300T=0.760C=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.819C=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.760C=0.240
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
21447778Inherited variants in mitochondrial biogenesis genes may influence epithelial ovarian cancer risk.Permuth-Wey JCancer Epidemiol Biomarkers Prev

P-Value

SNP ID p-value Traits Study
rs111078510.000376nicotine smoking19268276

eQTL of rs11107851 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 rs11107851 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 )
chr129539483995394893E0705996
chr129543470395434931E07145860
chr129539483995394893E0725996
chr129536215895362234E073-26609
chr129539483995394893E0815996
chr129539498195395031E0816138





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr129539660195398154E0677758
chr129539660195398154E0687758
chr129539660195398154E0697758
chr129539660195398154E0707758
chr129539660195398154E0717758
chr129539660195398154E0727758
chr129539660195398154E0737758
chr129539660195398154E0747758
chr129539660195398154E0817758
chr129539660195398154E0827758