rs12932935

Homo sapiens
T>G
RBFOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0218 (6542/29938,GnomAD)
G=0166 (4847/29118,TOPMED)
G=0148 (743/5008,1000G)
G=0297 (1143/3854,ALSPAC)
G=0320 (1185/3708,TWINSUK)
chr16:6475759 (GRCh38.p7) (16p13.3)
CD
GWASdb2
1   publication(s)
See rs on genome
80 Enhancers around
50 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.6475759T>G
GRCh37.p13 chr 16NC_000016.9:g.6525760T>G
RBFOX1 RefSeqGeneNG_011881.1:g.461629T>G

Gene: RBFOX1, RNA binding protein, fox-1 homolog 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RBFOX1 transcript variant 5NM_001142333.1:c.N/AIntron Variant
RBFOX1 transcript variant 7NM_001308117.1:c.N/AIntron Variant
RBFOX1 transcript variant 4NM_018723.3:c.N/AIntron Variant
RBFOX1 transcript variant 6NM_001142334.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant 1NM_145891.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant 2NM_145892.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant 3NM_145893.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X11XM_005255390.3:c.N/AIntron Variant
RBFOX1 transcript variant X1XM_017023318.1:c.N/AIntron Variant
RBFOX1 transcript variant X2XM_017023319.1:c.N/AIntron Variant
RBFOX1 transcript variant X3XM_017023320.1:c.N/AIntron Variant
RBFOX1 transcript variant X9XM_017023324.1:c.N/AIntron Variant
RBFOX1 transcript variant X14XM_017023326.1:c.N/AIntron Variant
RBFOX1 transcript variant X16XM_017023328.1:c.N/AIntron Variant
RBFOX1 transcript variant X18XM_017023329.1:c.N/AIntron Variant
RBFOX1 transcript variant X26XM_017023335.1:c.N/AIntron Variant
RBFOX1 transcript variant X33XM_017023341.1:c.N/AIntron Variant
RBFOX1 transcript variant X6XM_005255386.3:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X8XM_005255387.3:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X10XM_005255388.4:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X12XM_005255391.3:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X28XM_005255394.4:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X18XM_011522546.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X26XM_011522547.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X39XM_011522548.2:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X4XM_017023321.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X5XM_017023322.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X7XM_017023323.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X13XM_017023325.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X16XM_017023327.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X21XM_017023330.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X20XM_017023331.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X23XM_017023332.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X24XM_017023333.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X25XM_017023334.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X36XM_017023336.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X37XM_017023337.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X38XM_017023338.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X30XM_017023339.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X41XM_017023340.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X44XM_017023342.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X35XM_017023343.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.943G=0.057
1000GenomesAmericanSub694T=0.780G=0.220
1000GenomesEast AsianSub1008T=0.940G=0.060
1000GenomesEuropeSub1006T=0.722G=0.278
1000GenomesGlobalStudy-wide5008T=0.852G=0.148
1000GenomesSouth AsianSub978T=0.830G=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.703G=0.297
The Genome Aggregation DatabaseAfricanSub8726T=0.929G=0.071
The Genome Aggregation DatabaseAmericanSub838T=0.800G=0.200
The Genome Aggregation DatabaseEast AsianSub1620T=0.930G=0.070
The Genome Aggregation DatabaseEuropeSub18452T=0.698G=0.301
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.781G=0.218
The Genome Aggregation DatabaseOtherSub302T=0.770G=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.833G=0.166
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.680G=0.320
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs129329353.53E-05cocaine dependence23958962

eQTL of rs12932935 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 rs12932935 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 )
chr1665484196548501E07022659
chr1665485516548625E07022791
chr1665487936549384E07023033
chr1665495056549605E07023745
chr1665496686549759E07023908
chr1665498836549937E07024123
chr1665500566550166E07024296
chr1665502156550265E07024455
chr1665603136560363E07034553
chr1665605156560565E07034755
chr1665609236560983E07035163
chr1665615126561663E07035752
chr1665615126561663E07135752
chr1664892886489492E072-36268
chr1664890086489095E073-36665
chr1664892886489492E073-36268
chr1665357276535897E0739967
chr1664845026484680E081-41080
chr1664968126498104E081-27656
chr1664981776498269E081-27491
chr1664990846499143E081-26617
chr1664993196499608E081-26152
chr1665357276535897E0819967
chr1665399986540530E08114238
chr1665434586543519E08117698
chr1665436396544026E08117879
chr1665445126544591E08118752
chr1665447246545261E08118964
chr1665461936546602E08120433
chr1665466046546654E08120844
chr1665468916546941E08121131
chr1665470056547067E08121245
chr1665471506547206E08121390
chr1665484196548501E08122659
chr1665485516548625E08122791
chr1665487936549384E08123033
chr1665495056549605E08123745
chr1665496686549759E08123908
chr1665498836549937E08124123
chr1665500566550166E08124296
chr1665502156550265E08124455
chr1665609236560983E08135163
chr1665615126561663E08135752
chr1665709786571121E08145218
chr1665713576571407E08145597
chr1665714436571546E08145683
chr1665715956571845E08145835
chr1665719336572032E08146173
chr1665720906572151E08146330
chr1664965366496604E082-29156
chr1664966416496718E082-29042
chr1664968126498104E082-27656
chr1664981776498269E082-27491
chr1664993196499608E082-26152
chr1665399986540530E08214238
chr1665426606542817E08216900
chr1665434586543519E08217698
chr1665436396544026E08217879
chr1665445126544591E08218752
chr1665447246545261E08218964
chr1665461936546602E08220433
chr1665466046546654E08220844
chr1665468916546941E08221131
chr1665470056547067E08221245
chr1665471506547206E08221390
chr1665484196548501E08222659
chr1665485516548625E08222791
chr1665487936549384E08223033
chr1665495056549605E08223745
chr1665496686549759E08223908
chr1665498836549937E08224123
chr1665500566550166E08224296
chr1665502156550265E08224455
chr1665609236560983E08235163
chr1665709786571121E08245218
chr1665713576571407E08245597
chr1665714436571546E08245683
chr1665715956571845E08245835
chr1665719336572032E08246173
chr1665720906572151E08246330






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1665328426533022E0677082
chr1665330736533188E0677313
chr1665333076534523E0677547
chr1665345836534642E0678823
chr1665347316534790E0678971
chr1665348526534902E0679092
chr1665349526535323E0679192
chr1665328426533022E0687082
chr1665330736533188E0687313
chr1665333076534523E0687547
chr1665345836534642E0688823
chr1665347316534790E0688971
chr1665348526534902E0689092
chr1665349526535323E0689192
chr1665328426533022E0697082
chr1665330736533188E0697313
chr1665333076534523E0697547
chr1665345836534642E0698823
chr1665328426533022E0717082
chr1665330736533188E0717313
chr1665333076534523E0717547
chr1665345836534642E0718823
chr1665328426533022E0727082
chr1665330736533188E0727313
chr1665333076534523E0727547
chr1665345836534642E0728823
chr1665347316534790E0728971
chr1665348526534902E0729092
chr1665349526535323E0729192
chr1665328426533022E0737082
chr1665330736533188E0737313
chr1665333076534523E0737547
chr1665345836534642E0738823
chr1665347316534790E0738971
chr1665348526534902E0739092
chr1665349526535323E0739192
chr1665328426533022E0747082
chr1665330736533188E0747313
chr1665333076534523E0747547
chr1665345836534642E0748823
chr1665333076534523E0817547
chr1665345836534642E0818823
chr1665347316534790E0818971
chr1665328426533022E0827082
chr1665330736533188E0827313
chr1665333076534523E0827547
chr1665345836534642E0828823
chr1665347316534790E0828971
chr1665348526534902E0829092
chr1665349526535323E0829192