rs35569480

Homo sapiens
A>G
RBFOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0310 (9266/29854,GnomAD)
G=0291 (8479/29118,TOPMED)
G=0274 (1371/5008,1000G)
G=0394 (1519/3854,ALSPAC)
G=0401 (1488/3708,TWINSUK)
chr16:7105447 (GRCh38.p7) (16p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.7105447A>G
GRCh37.p13 chr 16NC_000016.9:g.7155448A>G
RBFOX1 RefSeqGeneNG_011881.1:g.1091317A>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=0.829G=0.171
1000GenomesAmericanSub694A=0.690G=0.310
1000GenomesEast AsianSub1008A=0.823G=0.177
1000GenomesEuropeSub1006A=0.624G=0.376
1000GenomesGlobalStudy-wide5008A=0.726G=0.274
1000GenomesSouth AsianSub978A=0.620G=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.606G=0.394
The Genome Aggregation DatabaseAfricanSub8688A=0.801G=0.199
The Genome Aggregation DatabaseAmericanSub834A=0.710G=0.290
The Genome Aggregation DatabaseEast AsianSub1614A=0.827G=0.173
The Genome Aggregation DatabaseEuropeSub18418A=0.624G=0.375
The Genome Aggregation DatabaseGlobalStudy-wide29854A=0.689G=0.310
The Genome Aggregation DatabaseOtherSub300A=0.690G=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.708G=0.291
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.599G=0.401
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
rs355694806.4E-05alcohol consumption23743675

eQTL of rs35569480 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 rs35569480 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 )
chr1671471757147346E071-8102
chr1671476307147777E071-7671
chr1671479407148010E071-7438
chr1671838557183915E08128407
chr1671407097140836E082-14612
chr1671408677141113E082-14335