rs12603684

Homo sapiens
G>T
RBFOX3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0265 (7929/29920,GnomAD)
T=0205 (5974/29118,TOPMED)
T=0254 (1274/5008,1000G)
T=0323 (1246/3854,ALSPAC)
T=0330 (1225/3708,TWINSUK)
chr17:79227717 (GRCh38.p7) (17q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
73 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.79227717G>T
GRCh37.p13 chr 17NC_000017.10:g.77223799G>T

Gene: RBFOX3, RNA binding protein, fox-1 homolog 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RBFOX3 transcript variant 1NM_001082575.2:c.N/AIntron Variant
RBFOX3 transcript variant X1XM_011524359.1:c.N/AIntron Variant
RBFOX3 transcript variant X7XM_011524360.1:c.N/AIntron Variant
RBFOX3 transcript variant X9XM_011524362.2:c.N/AIntron Variant
RBFOX3 transcript variant X5XM_011524363.2:c.N/AIntron Variant
RBFOX3 transcript variant X13XM_011524365.2:c.N/AIntron Variant
RBFOX3 transcript variant X15XM_011524366.2:c.N/AIntron Variant
RBFOX3 transcript variant X21XM_011524367.2:c.N/AIntron Variant
RBFOX3 transcript variant X8XM_017024208.1:c.N/AIntron Variant
RBFOX3 transcript variant X12XM_017024209.1:c.N/AIntron Variant
RBFOX3 transcript variant X9XM_017024210.1:c.N/AIntron Variant
RBFOX3 transcript variant X11XM_017024211.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.983T=0.017
1000GenomesAmericanSub694G=0.620T=0.380
1000GenomesEast AsianSub1008G=0.507T=0.493
1000GenomesEuropeSub1006G=0.703T=0.297
1000GenomesGlobalStudy-wide5008G=0.746T=0.254
1000GenomesSouth AsianSub978G=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.677T=0.323
The Genome Aggregation DatabaseAfricanSub8710G=0.936T=0.064
The Genome Aggregation DatabaseAmericanSub838G=0.530T=0.470
The Genome Aggregation DatabaseEast AsianSub1622G=0.479T=0.521
The Genome Aggregation DatabaseEuropeSub18448G=0.672T=0.327
The Genome Aggregation DatabaseGlobalStudy-wide29920G=0.735T=0.265
The Genome Aggregation DatabaseOtherSub302G=0.740T=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.794T=0.205
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.670T=0.330
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs126036844.02E-05alcohol craving with or without dependence22481050

eQTL of rs12603684 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 rs12603684 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 )
chr177718298977183049E068-40750
chr177718310977183164E068-40635
chr177718340177183461E068-40338
chr177718349777183547E068-40252
chr177718355477183604E068-40195
chr177718861677189455E068-34344
chr177719313677193186E068-30613
chr177719801477198215E068-25584
chr177719823477198323E068-25476
chr177719667177196721E069-27078
chr177721757477217650E069-6149
chr177718386677184616E070-39183
chr177718526677185560E070-38239
chr177718700077187071E070-36728
chr177718849577188614E070-35185
chr177718861677189455E070-34344
chr177719913077199380E070-24419
chr177720410977204395E070-19404
chr177720802377208178E070-15621
chr177720832777208554E070-15245
chr177720856277208936E070-14863
chr177721052277210572E070-13227
chr177721077877210844E070-12955
chr177721104877211421E070-12378
chr177721152577211612E070-12187
chr177721161377211763E070-12036
chr177721177577211863E070-11936
chr177721193777212004E070-11795
chr177721578677215881E070-7918
chr177721757477217650E070-6149
chr177721811077218193E070-5606
chr177718096877181071E072-42728
chr177718115477181208E072-42591
chr177718526677185560E072-38239
chr177721177577211863E072-11936
chr177718096877181071E073-42728
chr177718799277188114E073-35685
chr177718820977188422E073-35377
chr177718849577188614E073-35185
chr177719874477198805E073-24994
chr177719884077199048E073-24751
chr177719913077199380E073-24419
chr177726873177268988E07344932
chr177726910577269206E07345306
chr177726927977269360E07345480
chr177726938177269451E07345582
chr177726980377269853E07346004
chr177726997677270137E07346177
chr177718799277188114E081-35685
chr177718820977188422E081-35377
chr177718849577188614E081-35185
chr177720368277203896E081-19903
chr177720392577203985E081-19814
chr177720410977204395E081-19404
chr177720440777204512E081-19287
chr177720458277204632E081-19167
chr177721077877210844E081-12955
chr177721104877211421E081-12378
chr177721152577211612E081-12187
chr177724215977242265E08118360
chr177724233077242453E08118531
chr177724251177242809E08118712
chr177724293177243114E08119132
chr177721077877210844E082-12955
chr177721104877211421E082-12378
chr177721152577211612E082-12187
chr177721161377211763E082-12036
chr177721177577211863E082-11936
chr177724233077242453E08218531
chr177724251177242809E08218712
chr177724293177243114E08219132
chr177724409077244153E08220291
chr177724940777249474E08225608







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr177717937377180208E067-43591
chr177717937377180208E069-43591
chr177717937377180208E072-43591
chr177717937377180208E073-43591
chr177717845977179011E082-44788
chr177717919877179261E082-44538