rs11641647

Homo sapiens
A>G
RBFOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0386 (11555/29894,GnomAD)
A==0463 (13489/29118,TOPMED)
A==0412 (2061/5008,1000G)
A==0256 (987/3854,ALSPAC)
A==0250 (926/3708,TWINSUK)
chr16:7144839 (GRCh38.p7) (16p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.7144839A>G
GRCh37.p13 chr 16NC_000016.9:g.7194840A>G
RBFOX1 RefSeqGeneNG_011881.1:g.1130709A>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 6NM_001142334.1: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 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 X12XM_005255391.3: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 X4XM_017023321.1:c.N/AIntron Variant
RBFOX1 transcript variant X5XM_017023322.1:c.N/AIntron Variant
RBFOX1 transcript variant X9XM_017023324.1:c.N/AIntron Variant
RBFOX1 transcript variant X13XM_017023325.1: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 X21XM_017023330.1:c.N/AIntron Variant
RBFOX1 transcript variant X24XM_017023333.1:c.N/AIntron Variant
RBFOX1 transcript variant X26XM_017023335.1:c.N/AIntron Variant
RBFOX1 transcript variant X36XM_017023336.1:c.N/AIntron Variant
RBFOX1 transcript variant X38XM_017023338.1:c.N/AIntron Variant
RBFOX1 transcript variant X41XM_017023340.1:c.N/AIntron Variant
RBFOX1 transcript variant X33XM_017023341.1:c.N/AIntron Variant
RBFOX1 transcript variant X44XM_017023342.1: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 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 X7XM_017023323.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X16XM_017023327.1: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 X25XM_017023334.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X37XM_017023337.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X30XM_017023339.1: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
1000GenomesAfricanSub1322A=0.837G=0.163
1000GenomesAmericanSub694A=0.220G=0.780
1000GenomesEast AsianSub1008A=0.344G=0.656
1000GenomesEuropeSub1006A=0.237G=0.763
1000GenomesGlobalStudy-wide5008A=0.412G=0.588
1000GenomesSouth AsianSub978A=0.220G=0.780
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.256G=0.744
The Genome Aggregation DatabaseAfricanSub8704A=0.733G=0.267
The Genome Aggregation DatabaseAmericanSub838A=0.210G=0.790
The Genome Aggregation DatabaseEast AsianSub1610A=0.339G=0.661
The Genome Aggregation DatabaseEuropeSub18444A=0.237G=0.762
The Genome Aggregation DatabaseGlobalStudy-wide29894A=0.386G=0.613
The Genome Aggregation DatabaseOtherSub298A=0.270G=0.730
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.463G=0.536
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.250G=0.750
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs116416475.67E-05alcohol consumption23743675

eQTL of rs11641647 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 rs11641647 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 )
chr1671471757147346E071-47494
chr1671476307147777E071-47063
chr1671479407148010E071-46830
chr1671838557183915E081-10925
chr1672111957211253E08116355
chr1672112557211299E08116415
chr1672116747211995E08116834
chr1672120627212138E08117222
chr1672129337212995E08118093
chr1672133737213413E08118533
chr1672176437218166E08122803
chr1672187977218856E08123957
chr1672096097209740E08214769
chr1672112557211299E08216415
chr1672120627212138E08217222