rs10807344

Homo sapiens
C>T
SLC25A27 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0173 (5182/29956,GnomAD)
T=0136 (3961/29118,TOPMED)
T=0144 (721/5008,1000G)
T=0229 (884/3854,ALSPAC)
T=0225 (833/3708,TWINSUK)
chr6:46657898 (GRCh38.p7) (6p12.3)
AD
GWASdb2
6   publication(s)
See rs on genome
19 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.46657898C>T
GRCh37.p13 chr 6NC_000006.11:g.46625635C>T

Gene: SLC25A27, solute carrier family 25 member 27(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC25A27 transcript variant 2NM_001204051.1:c.N/AIntron Variant
SLC25A27 transcript variant 3NM_001204052.1:c.N/AIntron Variant
SLC25A27 transcript variant 1NM_004277.4:c.N/AIntron Variant
SLC25A27 transcript variant X1XM_005249483.2:c.N/AIntron Variant
SLC25A27 transcript variant X2XM_017011512.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.983T=0.017
1000GenomesAmericanSub694C=0.850T=0.150
1000GenomesEast AsianSub1008C=0.869T=0.131
1000GenomesEuropeSub1006C=0.787T=0.213
1000GenomesGlobalStudy-wide5008C=0.856T=0.144
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.771T=0.229
The Genome Aggregation DatabaseAfricanSub8728C=0.948T=0.052
The Genome Aggregation DatabaseAmericanSub838C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1614C=0.871T=0.129
The Genome Aggregation DatabaseEuropeSub18474C=0.767T=0.232
The Genome Aggregation DatabaseGlobalStudy-wide29956C=0.827T=0.173
The Genome Aggregation DatabaseOtherSub302C=0.690T=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.864T=0.136
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.775T=0.225
PMID Title Author Journal
22216339Further support to the uncoupling-to-survive theory: the genetic variation of human UCP genes is associated with longevity.Rose GPLoS One
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
17066476Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia.Yasuno KAm J Med Genet B Neuropsychiatr Genet
20442857Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.Suchindran SPLoS Genet
20545631A homozygous genetic variant of mitochondrial uncoupling protein 4 affects the occurrence of leukoaraiosis.Szolnoki ZActa Neurol Scand
19536655A homozygous genetic variant of mitochondrial uncoupling protein 4 exerts protection against the occurrence of multiple sclerosis.Szolnoki ZNeuromolecular Med

P-Value

SNP ID p-value Traits Study
rs108073440.00036alcohol dependence20201924

eQTL of rs10807344 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:46625635SLC25A27ENSG00000153291.11C>T2.7425e-214957Cerebellum
Chr6:46625635TDRD6ENSG00000180113.11C>T5.8864e-22-29977Cerebellum
Chr6:46625635SLC25A27ENSG00000153291.11C>T9.5972e-214957Frontal_Cortex_BA9
Chr6:46625635TDRD6ENSG00000180113.11C>T2.9268e-12-29977Frontal_Cortex_BA9
Chr6:46625635SLC25A27ENSG00000153291.11C>T1.6456e-114957Hypothalamus
Chr6:46625635TDRD6ENSG00000180113.11C>T2.0593e-13-29977Hypothalamus
Chr6:46625635SLC25A27ENSG00000153291.11C>T7.8680e-254957Cortex
Chr6:46625635TDRD6ENSG00000180113.11C>T8.2033e-17-29977Cortex
Chr6:46625635SLC25A27ENSG00000153291.11C>T4.5065e-184957Cerebellar_Hemisphere
Chr6:46625635TDRD6ENSG00000180113.11C>T2.5099e-15-29977Cerebellar_Hemisphere
Chr6:46625635SLC25A27ENSG00000153291.11C>T7.8290e-214957Caudate_basal_ganglia
Chr6:46625635TDRD6ENSG00000180113.11C>T7.0007e-23-29977Caudate_basal_ganglia
Chr6:46625635SLC25A27ENSG00000153291.11C>T4.4237e-84957Brain_Spinal_cord_cervical
Chr6:46625635SLC25A27ENSG00000153291.11C>T1.1982e-124957Hippocampus
Chr6:46625635TDRD6ENSG00000180113.11C>T1.9740e-10-29977Hippocampus
Chr6:46625635SLC25A27ENSG00000153291.11C>T4.9714e-84957Substantia_nigra
Chr6:46625635TDRD6ENSG00000180113.11C>T2.4527e-8-29977Substantia_nigra
Chr6:46625635SLC25A27ENSG00000153291.11C>T9.1763e-174957Putamen_basal_ganglia
Chr6:46625635TDRD6ENSG00000180113.11C>T8.5056e-17-29977Putamen_basal_ganglia
Chr6:46625635SLC25A27ENSG00000153291.11C>T7.0727e-184957Anterior_cingulate_cortex
Chr6:46625635TDRD6ENSG00000180113.11C>T2.1831e-7-29977Anterior_cingulate_cortex
Chr6:46625635SLC25A27ENSG00000153291.11C>T2.6897e-154957Nucleus_accumbens_basal_ganglia
Chr6:46625635TDRD6ENSG00000180113.11C>T3.0004e-12-29977Nucleus_accumbens_basal_ganglia
Chr6:46625635SLC25A27ENSG00000153291.11C>T2.7192e-114957Amygdala
Chr6:46625635TDRD6ENSG00000180113.11C>T2.0235e-5-29977Amygdala

meQTL of rs10807344 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 )
chr64659677246597212E068-28423
chr64662921446629520E0683579
chr64667245646672670E06846821
chr64664197046642744E06916335
chr64658046546580674E070-44961
chr64664480846644913E07019173
chr64664491546645010E07019280
chr64664506646645253E07019431
chr64659633846596538E071-29097
chr64659677246597212E071-28423
chr64664144146641555E07115806
chr64664197046642744E07116335
chr64667245646672670E07346821
chr64659633846596538E074-29097
chr64659677246597212E074-28423
chr64664197046642744E07416335
chr64660490446605279E081-20356
chr64664480846644913E08219173
chr64664491546645010E08219280








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr64661939746621871E067-3764
chr64662211146622173E067-3462
chr64661939746621871E068-3764
chr64662211146622173E068-3462
chr64662292846622978E068-2657
chr64661939746621871E069-3764
chr64661939746621871E070-3764
chr64661939746621871E071-3764
chr64662211146622173E071-3462
chr64661939746621871E072-3764
chr64662211146622173E072-3462
chr64662292846622978E072-2657
chr64661939746621871E073-3764
chr64662211146622173E073-3462
chr64662292846622978E073-2657
chr64661939746621871E074-3764
chr64661878146619076E081-6559
chr64661919846619260E081-6375
chr64661939746621871E081-3764
chr64661939746621871E082-3764
chr64662211146622173E082-3462