rs17192650

Homo sapiens
G>A
RBFOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0289 (8604/29764,GnomAD)
A=0270 (7866/29118,TOPMED)
A=0263 (1317/5008,1000G)
A=0404 (1556/3854,ALSPAC)
A=0410 (1519/3708,TWINSUK)
chr16:6066395 (GRCh38.p7) (16p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
77 Enhancers around
61 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.6066395G>A
GRCh37.p13 chr 16NC_000016.9:g.6116396G>A
RBFOX1 RefSeqGeneNG_011881.1:g.52265G>A

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 7NM_001308117.1:c.N/AIntron Variant
RBFOX1 transcript variant 4NM_018723.3:c.N/AIntron Variant
RBFOX1 transcript variant 6NM_001142334.1: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 X11XM_005255390.3: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 X9XM_017023324.1: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 X26XM_017023335.1:c.N/AIntron Variant
RBFOX1 transcript variant X33XM_017023341.1: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 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 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 X13XM_017023325.1:c.N/AGenic Upstream Transcript Variant
RBFOX1 transcript variant X16XM_017023327.1: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 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 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
1000GenomesAfricanSub1322G=0.939A=0.061
1000GenomesAmericanSub694G=0.660A=0.340
1000GenomesEast AsianSub1008G=0.743A=0.257
1000GenomesEuropeSub1006G=0.598A=0.402
1000GenomesGlobalStudy-wide5008G=0.737A=0.263
1000GenomesSouth AsianSub978G=0.650A=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.596A=0.404
The Genome Aggregation DatabaseAfricanSub8672G=0.901A=0.099
The Genome Aggregation DatabaseAmericanSub828G=0.640A=0.360
The Genome Aggregation DatabaseEast AsianSub1602G=0.766A=0.234
The Genome Aggregation DatabaseEuropeSub18362G=0.619A=0.380
The Genome Aggregation DatabaseGlobalStudy-wide29764G=0.710A=0.289
The Genome Aggregation DatabaseOtherSub300G=0.700A=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.729A=0.270
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.590A=0.410
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs171926500.000299alcohol consumption (maxi-drinks)24277619

eQTL of rs17192650 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 rs17192650 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 )
chr1660817216081916E067-34480
chr1660764086076448E068-39948
chr1660765186076573E068-39823
chr1660767986076892E068-39504
chr1660811806081251E068-35145
chr1660817216081916E068-34480
chr1660825276082699E068-33697
chr1660778336078058E070-38338
chr1660811806081251E073-35145
chr1660817216081916E073-34480
chr1660678126068015E081-48381
chr1660680616068111E081-48285
chr1660764086076448E081-39948
chr1660765186076573E081-39823
chr1660767986076892E081-39504
chr1660772786077328E081-39068
chr1660778336078058E081-38338
chr1660781916078266E081-38130
chr1660811806081251E081-35145
chr1660817216081916E081-34480
chr1660821686082275E081-34121
chr1660825276082699E081-33697
chr1660828536082977E081-33419
chr1660844506084792E081-31604
chr1660848436084959E081-31437
chr1660852646085385E081-31011
chr1660856066085857E081-30539
chr1660861076086161E081-30235
chr1660865166086566E081-29830
chr1660887596089698E081-26698
chr1660898906089963E081-26433
chr1660900186090116E081-26280
chr1660902616090315E081-26081
chr1660903716090430E081-25966
chr1660904326090541E081-25855
chr1660935926093672E081-22724
chr1661075916107641E081-8755
chr1661089366109203E081-7193
chr1661093226109373E081-7023
chr1661104306110844E081-5552
chr1661123596112452E081-3944
chr1661128646112945E081-3451
chr1661132936113343E081-3053
chr1661137116113797E081-2599
chr1661164986117181E081102
chr1661172456117327E081849
chr1661473826147548E08130986
chr1661487876148887E08132391
chr1661638186163862E08147422
chr1660678126068015E082-48381
chr1660680616068111E082-48285
chr1660764086076448E082-39948
chr1660765186076573E082-39823
chr1660772786077328E082-39068
chr1660778336078058E082-38338
chr1660781916078266E082-38130
chr1660817216081916E082-34480
chr1660821686082275E082-34121
chr1660825276082699E082-33697
chr1660828536082977E082-33419
chr1660844506084792E082-31604
chr1660848436084959E082-31437
chr1660852646085385E082-31011
chr1660856066085857E082-30539
chr1660861076086161E082-30235
chr1660887596089698E082-26698
chr1660898906089963E082-26433
chr1660900186090116E082-26280
chr1660902616090315E082-26081
chr1660903716090430E082-25966
chr1660904326090541E082-25855
chr1660911116091161E082-25235
chr1661096246110331E082-6065
chr1661104306110844E082-5552
chr1661164986117181E082102
chr1661172456117327E082849
chr1661647516165067E08248355






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1660686706068755E067-47641
chr1660687826069515E067-46881
chr1660696076069935E067-46461
chr1660699836070185E067-46211
chr1660702126070640E067-45756
chr1660706786070923E067-45473
chr1660709536071047E067-45349
chr1660686706068755E068-47641
chr1660687826069515E068-46881
chr1660696076069935E068-46461
chr1660699836070185E068-46211
chr1660702126070640E068-45756
chr1660706786070923E068-45473
chr1660709536071047E068-45349
chr1660716086071678E068-44718
chr1660719436072093E068-44303
chr1660686706068755E069-47641
chr1660687826069515E069-46881
chr1660696076069935E069-46461
chr1660699836070185E069-46211
chr1660702126070640E069-45756
chr1660706786070923E069-45473
chr1660709536071047E069-45349
chr1660696076069935E070-46461
chr1660699836070185E070-46211
chr1660702126070640E070-45756
chr1660706786070923E070-45473
chr1660709536071047E070-45349
chr1660686706068755E071-47641
chr1660687826069515E071-46881
chr1660696076069935E071-46461
chr1660699836070185E071-46211
chr1660702126070640E071-45756
chr1660706786070923E071-45473
chr1660709536071047E071-45349
chr1660686706068755E072-47641
chr1660687826069515E072-46881
chr1660696076069935E072-46461
chr1660699836070185E072-46211
chr1660702126070640E072-45756
chr1660706786070923E072-45473
chr1660709536071047E072-45349
chr1660716086071678E072-44718
chr1660686706068755E073-47641
chr1660687826069515E073-46881
chr1660696076069935E073-46461
chr1660699836070185E073-46211
chr1660702126070640E073-45756
chr1660706786070923E073-45473
chr1660709536071047E073-45349
chr1660716086071678E073-44718
chr1660719436072093E073-44303
chr1660696076069935E074-46461
chr1660699836070185E074-46211
chr1660702126070640E081-45756
chr1660706786070923E081-45473
chr1660709536071047E081-45349
chr1660696076069935E082-46461
chr1660699836070185E082-46211
chr1660702126070640E082-45756
chr1660719436072093E082-44303