rs11077139

Homo sapiens
C>A / C>G
RBFOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0249 (7458/29922,GnomAD)
C==0272 (7930/29118,TOPMED)
C==0257 (1285/5008,1000G)
C==0250 (965/3854,ALSPAC)
C==0240 (889/3708,TWINSUK)
chr16:7124873 (GRCh38.p7) (16p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.7124873C>A
GRCh38.p7 chr 16NC_000016.10:g.7124873C>G
GRCh37.p13 chr 16NC_000016.9:g.7174874C>A
GRCh37.p13 chr 16NC_000016.9:g.7174874C>G
RBFOX1 RefSeqGeneNG_011881.1:g.1110743C>A
RBFOX1 RefSeqGeneNG_011881.1:g.1110743C>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
1000GenomesAfricanSub1322C=0.370G=0.630
1000GenomesAmericanSub694C=0.180G=0.820
1000GenomesEast AsianSub1008C=0.218G=0.782
1000GenomesEuropeSub1006C=0.218G=0.782
1000GenomesGlobalStudy-wide5008C=0.257G=0.743
1000GenomesSouth AsianSub978C=0.240G=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.250G=0.750
The Genome Aggregation DatabaseAfricanSub8702C=0.337G=0.663
The Genome Aggregation DatabaseAmericanSub834C=0.180G=0.820
The Genome Aggregation DatabaseEast AsianSub1612C=0.210G=0.790
The Genome Aggregation DatabaseEuropeSub18472C=0.214G=0.785
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.249G=0.750
The Genome Aggregation DatabaseOtherSub302C=0.250G=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.272G=0.727
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.240G=0.760
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
rs110771392.19E-05alcohol consumption23743675

eQTL of rs11077139 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 rs11077139 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.