rs10484314

Homo sapiens
A>G
FARS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0303 (9088/29938,GnomAD)
G=0291 (8483/29118,TOPMED)
G=0398 (1994/5008,1000G)
G=0313 (1208/3854,ALSPAC)
G=0318 (1180/3708,TWINSUK)
chr6:5647854 (GRCh38.p7) (6p25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
84 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.5647854A>G
GRCh37.p13 chr 6NC_000006.11:g.5648087A>G
FARS2 RefSeqGeneNG_033003.1:g.391504A>G

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 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 X4XM_011514247.2:c.N/AGenic Downstream Transcript Variant
FARS2 transcript variant X8XM_011514251.2:c.N/AGenic Downstream Transcript Variant
FARS2 transcript variant X9XR_926028.1:n.N/AIntron Variant
FARS2 transcript variant X7XR_926027.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.828G=0.172
1000GenomesAmericanSub694A=0.570G=0.430
1000GenomesEast AsianSub1008A=0.420G=0.580
1000GenomesEuropeSub1006A=0.631G=0.369
1000GenomesGlobalStudy-wide5008A=0.602G=0.398
1000GenomesSouth AsianSub978A=0.480G=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.687G=0.313
The Genome Aggregation DatabaseAfricanSub8718A=0.820G=0.180
The Genome Aggregation DatabaseAmericanSub838A=0.530G=0.470
The Genome Aggregation DatabaseEast AsianSub1614A=0.436G=0.564
The Genome Aggregation DatabaseEuropeSub18466A=0.670G=0.329
The Genome Aggregation DatabaseGlobalStudy-wide29938A=0.696G=0.303
The Genome Aggregation DatabaseOtherSub302A=0.590G=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.708G=0.291
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.682G=0.318
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
rs104843140.00061alcohol dependence20201924

eQTL of rs10484314 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 rs10484314 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 )
chr656370355637141E067-10946
chr656382195638320E067-9767
chr656388545638948E067-9139
chr656389955639406E067-8681
chr656453615646265E067-1822
chr656463265646424E067-1663
chr656638625664001E06715775
chr656640695664192E06715982
chr656644965664564E06716409
chr656649085664980E06716821
chr656705225671317E06722435
chr656722605672384E06724173
chr656725235673529E06724436
chr656737605673907E06725673
chr656636335663804E06815546
chr656638625664001E06815775
chr656640695664192E06815982
chr656719805672096E06823893
chr656722605672384E06824173
chr656725235673529E06824436
chr656389955639406E069-8681
chr656453615646265E069-1822
chr656638625664001E06915775
chr656640695664192E06915982
chr656725235673529E06924436
chr656463265646424E070-1663
chr656631315663288E07015044
chr656636335663804E07015546
chr656638625664001E07015775
chr656640695664192E07015982
chr656644965664564E07016409
chr656388545638948E071-9139
chr656389955639406E071-8681
chr656453615646265E071-1822
chr656636335663804E07115546
chr656638625664001E07115775
chr656640695664192E07115982
chr656644965664564E07116409
chr656714225671798E07123335
chr656719805672096E07123893
chr656722605672384E07124173
chr656725235673529E07124436
chr656737605673907E07125673
chr656744535674714E07126366
chr656749945675254E07126907
chr656382195638320E072-9767
chr656388545638948E072-9139
chr656389955639406E072-8681
chr656453615646265E072-1822
chr656463265646424E072-1663
chr656638625664001E07215775
chr656640695664192E07215982
chr656644965664564E07216409
chr656649085664980E07216821
chr656650485665244E07216961
chr656652455665473E07217158
chr656655545665728E07217467
chr656714225671798E07223335
chr656719805672096E07223893
chr656722605672384E07224173
chr656725235673529E07324436
chr656737605673907E07325673
chr656739625674043E07325875
chr656382195638320E074-9767
chr656388545638948E074-9139
chr656389955639406E074-8681
chr656398925639981E074-8106
chr656714225671798E07423335
chr656244585624574E081-23513
chr656272505627831E081-20256
chr656283535628441E081-19646
chr656453615646265E081-1822
chr656463265646424E081-1663
chr656631315663288E08115044
chr656737605673907E08125673
chr656271085627196E082-20891
chr656272505627831E082-20256
chr656447645645054E082-3033
chr656453615646265E082-1822
chr656463265646424E082-1663
chr656631315663288E08215044
chr656636335663804E08215546
chr656725235673529E08224436
chr656737605673907E08225673