rs17138815

Homo sapiens
C>T
RBFOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0058 (1767/29986,GnomAD)
T=0088 (2584/29118,TOPMED)
T=0061 (304/5008,1000G)
T=0000 (1/3854,ALSPAC)
T=0000 (1/3708,TWINSUK)
chr16:5901423 (GRCh38.p7) (16p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
66 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.5901423C>T
GRCh37.p13 chr 16NC_000016.9:g.5951424C>T

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/AGenic Upstream Transcript Variant
RBFOX1 transcript variant 6NM_001142334.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant 7NM_001308117.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant 4NM_018723.3: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 X1XM_017023318.1:c.N/AIntron Variant
RBFOX1 transcript variant X2XM_017023319.1: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 X11XM_005255390.3: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 X3XM_017023320.1: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 X9XM_017023324.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X13XM_017023325.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X14XM_017023326.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X16XM_017023327.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X16XM_017023328.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X18XM_017023329.1: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 X26XM_017023335.1: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 X33XM_017023341.1: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
1000GenomesAfricanSub1322C=0.780T=0.220
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.939T=0.061
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8720C=0.800T=0.200
The Genome Aggregation DatabaseAmericanSub838C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18504C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29986C=0.941T=0.058
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.911T=0.088
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=1.000T=0.000
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs171388150.000449alcohol dependence20201924

eQTL of rs17138815 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 rs17138815 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 )
chr1659410175941689E068-9735
chr1659417575941938E068-9486
chr1659208315921722E070-29702
chr1659219845922064E070-29360
chr1659410175941689E070-9735
chr1659457105945787E070-5637
chr1659459445946301E070-5123
chr1659463425946388E070-5036
chr1659463985946513E070-4911
chr1659625725962629E07011148
chr1659720535972134E07020629
chr1659723145973201E07020890
chr1659733415973521E07021917
chr1659739355974129E07022511
chr1659745915974650E07023167
chr1659410175941689E072-9735
chr1659417575941938E072-9486
chr1659079695908139E081-43285
chr1659082115908917E081-42507
chr1659093375909377E081-42047
chr1659208315921722E081-29702
chr1659219845922064E081-29360
chr1659221645922401E081-29023
chr1659266565926876E081-24548
chr1659324055932505E081-18919
chr1659326745933106E081-18318
chr1659331265933223E081-18201
chr1659334585933699E081-17725
chr1659339035933971E081-17453
chr1659339765934026E081-17398
chr1659353105935486E081-15938
chr1659356255935806E081-15618
chr1659408215940954E081-10470
chr1659410175941689E081-9735
chr1659417575941938E081-9486
chr1659718305971967E08120406
chr1659720535972134E08120629
chr1659723145973201E08120890
chr1659733415973521E08121917
chr1659829915983071E08131567
chr1659832225983540E08131798
chr1659979075998088E08146483
chr1659982205998270E08146796
chr1659079695908139E082-43285
chr1659082115908917E082-42507
chr1659093375909377E082-42047
chr1659121285912282E082-39142
chr1659122865912375E082-39049
chr1659125325912722E082-38702
chr1659127775912817E082-38607
chr1659152755915491E082-35933
chr1659155345915645E082-35779
chr1659191805919251E082-32173
chr1659198365919890E082-31534
chr1659208315921722E082-29702
chr1659219845922064E082-29360
chr1659221645922401E082-29023
chr1659273675927417E082-24007
chr1659410175941689E082-9735
chr1659417575941938E082-9486
chr1659537255953813E0822301
chr1659538525954271E0822428
chr1659720535972134E08220629
chr1659723145973201E08220890
chr1659733415973521E08221917
chr1659761945976329E08224770