rs456053

Homo sapiens
G>A
FRY : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0470 (14063/29918,GnomAD)
A=0431 (12552/29116,TOPMED)
A=0443 (2219/5008,1000G)
G==0412 (1589/3854,ALSPAC)
G==0416 (1543/3708,TWINSUK)
chr13:32061626 (GRCh38.p7) (13q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
165 Enhancers around
56 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.32061626G>A
GRCh37.p13 chr 13NC_000013.10:g.32635763G>A

Gene: FRY, FRY microtubule binding protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FRY transcriptNM_023037.2:c.N/AIntron Variant
FRY transcript variant X1XM_006719749.3:c.N/AIntron Variant
FRY transcript variant X1XM_017020303.1:c.N/AIntron Variant
FRY transcript variant X3XM_017020304.1:c.N/AIntron Variant
FRY transcript variant X4XM_017020305.1:c.N/AGenic Upstream Transcript Variant
FRY transcript variant X3XM_017020306.1:c.N/AGenic Upstream Transcript Variant
FRY transcript variant X6XM_017020307.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.784A=0.216
1000GenomesAmericanSub694G=0.430A=0.570
1000GenomesEast AsianSub1008G=0.645A=0.355
1000GenomesEuropeSub1006G=0.421A=0.579
1000GenomesGlobalStudy-wide5008G=0.557A=0.443
1000GenomesSouth AsianSub978G=0.390A=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.412A=0.588
The Genome Aggregation DatabaseAfricanSub8704G=0.726A=0.274
The Genome Aggregation DatabaseAmericanSub838G=0.420A=0.580
The Genome Aggregation DatabaseEast AsianSub1610G=0.671A=0.329
The Genome Aggregation DatabaseEuropeSub18464G=0.432A=0.567
The Genome Aggregation DatabaseGlobalStudy-wide29918G=0.529A=0.470
The Genome Aggregation DatabaseOtherSub302G=0.410A=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.568A=0.431
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.416A=0.584
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs4560530.000468alcohol dependence21314694

eQTL of rs456053 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 rs456053 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 )
chr133259603432596155E067-39608
chr133259631632596949E067-38814
chr133260403332604120E067-31643
chr133260433932604389E067-31374
chr133260937732609417E067-26346
chr133260965932609850E067-25913
chr133260999132610150E067-25613
chr133261075732611281E067-24482
chr133261131832611378E067-24385
chr133261140032611508E067-24255
chr133261165832611838E067-23925
chr133261945332619576E067-16187
chr133261962132619679E067-16084
chr133261978532619942E067-15821
chr133262000332620064E067-15699
chr133262013532621172E067-14591
chr133262124032621591E067-14172
chr133262195332622007E067-13756
chr133262203332622203E067-13560
chr133262224632622522E067-13241
chr133262256632622616E067-13147
chr133262276332622813E067-12950
chr133262297332623363E067-12400
chr133263372332634289E067-1474
chr133263444632635128E067-635
chr133259631632596949E068-38814
chr133259695732597075E068-38688
chr133260403332604120E068-31643
chr133260909032609157E068-26606
chr133260937732609417E068-26346
chr133260965932609850E068-25913
chr133260999132610150E068-25613
chr133261024332610596E068-25167
chr133261140032611508E068-24255
chr133261165832611838E068-23925
chr133261945332619576E068-16187
chr133261962132619679E068-16084
chr133261978532619942E068-15821
chr133262000332620064E068-15699
chr133262124032621591E068-14172
chr133262195332622007E068-13756
chr133262203332622203E068-13560
chr133262224632622522E068-13241
chr133262256632622616E068-13147
chr133262276332622813E068-12950
chr133262297332623363E068-12400
chr133262339732623476E068-12287
chr133263372332634289E068-1474
chr133263444632635128E068-635
chr133263513632635430E068-333
chr133263721832638052E0681455
chr133263812632638823E0682363
chr133265368632653801E06817923
chr133260999132610150E069-25613
chr133261024332610596E069-25167
chr133261075732611281E069-24482
chr133261131832611378E069-24385
chr133261140032611508E069-24255
chr133261165832611838E069-23925
chr133261945332619576E069-16187
chr133261962132619679E069-16084
chr133261978532619942E069-15821
chr133262000332620064E069-15699
chr133262124032621591E069-14172
chr133262195332622007E069-13756
chr133262203332622203E069-13560
chr133262224632622522E069-13241
chr133262256632622616E069-13147
chr133262276332622813E069-12950
chr133262297332623363E069-12400
chr133263444632635128E069-635
chr133263513632635430E069-333
chr133263721832638052E0691455
chr133261075732611281E070-24482
chr133261131832611378E070-24385
chr133261140032611508E070-24255
chr133260471732604777E071-30986
chr133260795632608267E071-27496
chr133261879732618865E071-16898
chr133261945332619576E071-16187
chr133261962132619679E071-16084
chr133261978532619942E071-15821
chr133262000332620064E071-15699
chr133262013532621172E071-14591
chr133262124032621591E071-14172
chr133262195332622007E071-13756
chr133262203332622203E071-13560
chr133262224632622522E071-13241
chr133262256632622616E071-13147
chr133262276332622813E071-12950
chr133262297332623363E071-12400
chr133262339732623476E071-12287
chr133263444632635128E071-635
chr133263513632635430E071-333
chr133263721832638052E0711455
chr133263812632638823E0712363
chr133263893832639018E0713175
chr133260403332604120E072-31643
chr133260433932604389E072-31374
chr133260471732604777E072-30986
chr133261945332619576E072-16187
chr133261962132619679E072-16084
chr133261978532619942E072-15821
chr133262000332620064E072-15699
chr133262195332622007E072-13756
chr133262203332622203E072-13560
chr133262224632622522E072-13241
chr133262256632622616E072-13147
chr133262276332622813E072-12950
chr133262297332623363E072-12400
chr133262339732623476E072-12287
chr133260787132607931E073-27832
chr133260909032609157E073-26606
chr133260937732609417E073-26346
chr133261978532619942E073-15821
chr133262000332620064E073-15699
chr133262013532621172E073-14591
chr133262124032621591E073-14172
chr133262195332622007E073-13756
chr133262203332622203E073-13560
chr133262224632622522E073-13241
chr133262256632622616E073-13147
chr133262276332622813E073-12950
chr133262297332623363E073-12400
chr133263444632635128E073-635
chr133263513632635430E073-333
chr133260795632608267E074-27496
chr133260965932609850E074-25913
chr133260999132610150E074-25613
chr133261024332610596E074-25167
chr133261075732611281E074-24482
chr133261131832611378E074-24385
chr133261945332619576E074-16187
chr133261962132619679E074-16084
chr133261978532619942E074-15821
chr133262000332620064E074-15699
chr133262013532621172E074-14591
chr133262124032621591E074-14172
chr133262195332622007E074-13756
chr133262203332622203E074-13560
chr133262224632622522E074-13241
chr133262256632622616E074-13147
chr133262276332622813E074-12950
chr133262297332623363E074-12400
chr133262339732623476E074-12287
chr133263444632635128E074-635
chr133263513632635430E074-333
chr133263721832638052E0741455
chr133265448632654876E07418723
chr133260787132607931E081-27832
chr133260795632608267E081-27496
chr133260909032609157E081-26606
chr133261075732611281E081-24482
chr133261131832611378E081-24385
chr133263444632635128E081-635
chr133263513632635430E081-333
chr133260909032609157E082-26606
chr133260965932609850E082-25913
chr133261075732611281E082-24482
chr133261131832611378E082-24385
chr133261140032611508E082-24255
chr133261492232615098E082-20665
chr133263444632635128E082-635
chr133263513632635430E082-333
chr133263721832638052E0821455










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr133260480732606107E067-29656
chr133260616832606384E067-29379
chr133260650332606820E067-28943
chr133260697532607053E067-28710
chr133260708832607157E067-28606
chr133260715932607231E067-28532
chr133260480732606107E068-29656
chr133260616832606384E068-29379
chr133260650332606820E068-28943
chr133260697532607053E068-28710
chr133260708832607157E068-28606
chr133260715932607231E068-28532
chr133260480732606107E069-29656
chr133260616832606384E069-29379
chr133260650332606820E069-28943
chr133260697532607053E069-28710
chr133260708832607157E069-28606
chr133260715932607231E069-28532
chr133260480732606107E070-29656
chr133260616832606384E070-29379
chr133260650332606820E070-28943
chr133260697532607053E070-28710
chr133260708832607157E070-28606
chr133260715932607231E070-28532
chr133260480732606107E071-29656
chr133260616832606384E071-29379
chr133260650332606820E071-28943
chr133260697532607053E071-28710
chr133260708832607157E071-28606
chr133260715932607231E071-28532
chr133260480732606107E072-29656
chr133260616832606384E072-29379
chr133260650332606820E072-28943
chr133260697532607053E072-28710
chr133260708832607157E072-28606
chr133260715932607231E072-28532
chr133260480732606107E073-29656
chr133260616832606384E073-29379
chr133260650332606820E073-28943
chr133260697532607053E073-28710
chr133260708832607157E073-28606
chr133260715932607231E073-28532
chr133260480732606107E074-29656
chr133260616832606384E074-29379
chr133260480732606107E081-29656
chr133260616832606384E081-29379
chr133260650332606820E081-28943
chr133260697532607053E081-28710
chr133260708832607157E081-28606
chr133260715932607231E081-28532
chr133260480732606107E082-29656
chr133260616832606384E082-29379
chr133260650332606820E082-28943
chr133260697532607053E082-28710
chr133260708832607157E082-28606
chr133260715932607231E082-28532