rs9328308

Homo sapiens
T>C
FARS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0307 (9200/29898,GnomAD)
T==0306 (8909/29118,TOPMED)
T==0364 (1824/5008,1000G)
T==0259 (997/3854,ALSPAC)
T==0249 (922/3708,TWINSUK)
chr6:5513258 (GRCh38.p7) (6p25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
98 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.5513258T>C
GRCh37.p13 chr 6NC_000006.11:g.5513491T>C
FARS2 RefSeqGeneNG_033003.1:g.256908T>C

Gene: FARS2, phenylalanyl-tRNA synthetase 2, mitochondrial(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FARS2 transcript variant 1NM_001318872.1:c.N/AIntron Variant
FARS2 transcript variant 2NM_006567.4:c.N/AIntron Variant
FARS2 transcript variant X1XM_005248812.3:c.N/AIntron Variant
FARS2 transcript variant X4XM_011514247.2:c.N/AIntron Variant
FARS2 transcript variant X5XM_011514248.2:c.N/AIntron Variant
FARS2 transcript variant X6XM_011514249.1:c.N/AIntron Variant
FARS2 transcript variant X2XM_017010186.1:c.N/AIntron Variant
FARS2 transcript variant X3XM_017010187.1:c.N/AIntron Variant
FARS2 transcript variant X10XM_006714966.2:c.N/AGenic Downstream Transcript Variant
FARS2 transcript variant X8XM_011514251.2:c.N/AGenic Downstream Transcript Variant
FARS2 transcript variant X7XR_926027.2:n.N/AIntron Variant
FARS2 transcript variant X9XR_926028.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.307C=0.693
1000GenomesAmericanSub694T=0.320C=0.680
1000GenomesEast AsianSub1008T=0.510C=0.490
1000GenomesEuropeSub1006T=0.321C=0.679
1000GenomesGlobalStudy-wide5008T=0.364C=0.636
1000GenomesSouth AsianSub978T=0.370C=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.259C=0.741
The Genome Aggregation DatabaseAfricanSub8704T=0.315C=0.685
The Genome Aggregation DatabaseAmericanSub834T=0.380C=0.620
The Genome Aggregation DatabaseEast AsianSub1612T=0.524C=0.476
The Genome Aggregation DatabaseEuropeSub18446T=0.282C=0.717
The Genome Aggregation DatabaseGlobalStudy-wide29898T=0.307C=0.692
The Genome Aggregation DatabaseOtherSub302T=0.290C=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.306C=0.694
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.249C=0.751
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs93283080.0000657alcoholismpha002893
rs93283080.000066alcohol dependence20201924
rs93283080.00076alcohol dependenc(early age of onset)e20201924

eQTL of rs9328308 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 rs9328308 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 )
chr654711365472622E067-40869
chr654810005481050E067-32441
chr654816335481822E067-31669
chr654995675499627E067-13864
chr654998765500222E067-13269
chr655004055500658E067-12833
chr655008505500935E067-12556
chr655009845501413E067-12078
chr654728765473145E068-40346
chr654816335481822E068-31669
chr654995675499627E068-13864
chr654998765500222E068-13269
chr655004055500658E068-12833
chr655008505500935E068-12556
chr655009845501413E068-12078
chr655138505513984E068359
chr655255885525787E06812097
chr655406415540884E06827150
chr654644565464540E069-48951
chr654711365472622E069-40869
chr654808335480883E069-32608
chr654810005481050E069-32441
chr654982395499069E069-14422
chr654995675499627E069-13864
chr654998765500222E069-13269
chr655004055500658E069-12833
chr655008505500935E069-12556
chr655009845501413E069-12078
chr655400265540290E06926535
chr654711365472622E070-40869
chr654728765473145E070-40346
chr654810005481050E070-32441
chr654905135490594E070-22897
chr654907455490858E070-22633
chr654910095491131E070-22360
chr654975585497609E070-15882
chr654982395499069E070-14422
chr654995675499627E070-13864
chr654998765500222E070-13269
chr654644565464540E071-48951
chr654646505464719E071-48772
chr654728765473145E071-40346
chr654808335480883E071-32608
chr654816335481822E071-31669
chr654821575482258E071-31233
chr654995675499627E071-13864
chr654998765500222E071-13269
chr655004055500658E071-12833
chr655008505500935E071-12556
chr655009845501413E071-12078
chr655400265540290E07126535
chr654711365472622E072-40869
chr654810005481050E072-32441
chr654816335481822E072-31669
chr654905135490594E072-22897
chr654995675499627E072-13864
chr654998765500222E072-13269
chr655009845501413E072-12078
chr655255885525787E07212097
chr655400265540290E07226535
chr655406415540884E07227150
chr654808335480883E073-32608
chr654810005481050E073-32441
chr654995675499627E073-13864
chr654998765500222E073-13269
chr655004055500658E073-12833
chr655008505500935E073-12556
chr655009845501413E073-12078
chr654711365472622E074-40869
chr654816335481822E074-31669
chr654995675499627E074-13864
chr654998765500222E074-13269
chr655004055500658E074-12833
chr655008505500935E074-12556
chr655009845501413E074-12078
chr655015285501685E074-11806
chr655255885525787E07412097
chr655400265540290E07426535
chr655406415540884E07427150
chr654711365472622E081-40869
chr654728765473145E081-40346
chr654789965479065E081-34426
chr654808335480883E081-32608
chr654810005481050E081-32441
chr654812025481415E081-32076
chr654814385481552E081-31939
chr654816335481822E081-31669
chr654821575482258E081-31233
chr655004055500658E081-12833
chr655008505500935E081-12556
chr655125395512598E081-893
chr655138505513984E081359
chr654728765473145E082-40346
chr654808335480883E082-32608
chr654816335481822E082-31669
chr654821575482258E082-31233
chr655004055500658E082-12833
chr655008505500935E082-12556