rs8047522

Homo sapiens
T>C
RBFOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0212 (6322/29720,GnomAD)
T==0223 (6500/29118,TOPMED)
T==0217 (1085/5008,1000G)
T==0228 (879/3854,ALSPAC)
T==0226 (837/3708,TWINSUK)
chr16:7139410 (GRCh38.p7) (16p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.7139410T>C
GRCh37.p13 chr 16NC_000016.9:g.7189411T>C
RBFOX1 RefSeqGeneNG_011881.1:g.1125280T>C

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
1000GenomesAfricanSub1322T=0.248C=0.752
1000GenomesAmericanSub694T=0.170C=0.830
1000GenomesEast AsianSub1008T=0.235C=0.765
1000GenomesEuropeSub1006T=0.199C=0.801
1000GenomesGlobalStudy-wide5008T=0.217C=0.783
1000GenomesSouth AsianSub978T=0.210C=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.228C=0.772
The Genome Aggregation DatabaseAfricanSub8638T=0.246C=0.754
The Genome Aggregation DatabaseAmericanSub834T=0.170C=0.830
The Genome Aggregation DatabaseEast AsianSub1588T=0.229C=0.771
The Genome Aggregation DatabaseEuropeSub18358T=0.197C=0.802
The Genome Aggregation DatabaseGlobalStudy-wide29720T=0.212C=0.787
The Genome Aggregation DatabaseOtherSub302T=0.230C=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.223C=0.776
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.226C=0.774
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
rs80475222.87E-05alcohol consumption23743675

eQTL of rs8047522 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 rs8047522 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 )
chr1671471757147346E071-42065
chr1671476307147777E071-41634
chr1671479407148010E071-41401
chr1671838557183915E081-5496
chr1672111957211253E08121784
chr1672112557211299E08121844
chr1672116747211995E08122263
chr1672120627212138E08122651
chr1672129337212995E08123522
chr1672133737213413E08123962
chr1672176437218166E08128232
chr1672187977218856E08129386
chr1671407097140836E082-48575
chr1671408677141113E082-48298
chr1672096097209740E08220198
chr1672112557211299E08221844
chr1672120627212138E08222651