SNP Detail Info-rs1904224

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.7141865A>T
GRCh37.p13 chr 16	NC_000016.9:g.7191866A>T
RBFOX1 RefSeqGene	NG_011881.1:g.1127735A>T

Gene: RBFOX1, RNA binding protein, fox-1 homolog 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RBFOX1 transcript variant 5	NM_001142333.1:c.	N/A	Intron Variant
RBFOX1 transcript variant 6	NM_001142334.1:c.	N/A	Intron Variant
RBFOX1 transcript variant 7	NM_001308117.1:c.	N/A	Intron Variant
RBFOX1 transcript variant 4	NM_018723.3:c.	N/A	Intron Variant
RBFOX1 transcript variant 1	NM_145891.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant 2	NM_145892.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant 3	NM_145893.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X11	XM_005255390.3:c.	N/A	Intron Variant
RBFOX1 transcript variant X12	XM_005255391.3:c.	N/A	Intron Variant
RBFOX1 transcript variant X1	XM_017023318.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X2	XM_017023319.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X3	XM_017023320.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X4	XM_017023321.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X5	XM_017023322.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X9	XM_017023324.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X13	XM_017023325.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X14	XM_017023326.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X16	XM_017023328.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X18	XM_017023329.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X21	XM_017023330.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X24	XM_017023333.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X26	XM_017023335.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X36	XM_017023336.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X38	XM_017023338.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X41	XM_017023340.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X33	XM_017023341.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X44	XM_017023342.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X6	XM_005255386.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X8	XM_005255387.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X10	XM_005255388.4:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X28	XM_005255394.4:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X18	XM_011522546.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X26	XM_011522547.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X39	XM_011522548.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X7	XM_017023323.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X16	XM_017023327.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X20	XM_017023331.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X23	XM_017023332.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X25	XM_017023334.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X37	XM_017023337.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X30	XM_017023339.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X35	XM_017023343.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.336	T=0.664
1000Genomes	American	Sub	694	A=0.190	T=0.810
1000Genomes	East Asian	Sub	1008	A=0.346	T=0.654
1000Genomes	Europe	Sub	1006	A=0.215	T=0.785
1000Genomes	Global	Study-wide	5008	A=0.270	T=0.730
1000Genomes	South Asian	Sub	978	A=0.220	T=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.238	T=0.762
The Genome Aggregation Database	African	Sub	8698	A=0.302	T=0.698
The Genome Aggregation Database	American	Sub	838	A=0.180	T=0.820
The Genome Aggregation Database	East Asian	Sub	1608	A=0.336	T=0.664
The Genome Aggregation Database	Europe	Sub	18466	A=0.212	T=0.787
The Genome Aggregation Database	Global	Study-wide	29910	A=0.244	T=0.755
The Genome Aggregation Database	Other	Sub	300	A=0.240	T=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.257	T=0.742
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.237	T=0.763

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs1904224	2.33E-05	alcohol consumption	23743675

eQTL of rs1904224 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 rs1904224 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr16	7147175	7147346	E071	-44520
chr16	7147630	7147777	E071	-44089
chr16	7147940	7148010	E071	-43856
chr16	7183855	7183915	E081	-7951
chr16	7211195	7211253	E081	19329
chr16	7211255	7211299	E081	19389
chr16	7211674	7211995	E081	19808
chr16	7212062	7212138	E081	20196
chr16	7212933	7212995	E081	21067
chr16	7213373	7213413	E081	21507
chr16	7217643	7218166	E081	25777
chr16	7218797	7218856	E081	26931
chr16	7209609	7209740	E082	17743
chr16	7211255	7211299	E082	19389
chr16	7212062	7212138	E082	20196

rs1904224

Genomic Coordinates

Gene: RBFOX1, RNA binding protein, fox-1 homolog 1(plus strand)

Population Frequency

P-Value

eQTL of rs1904224 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs1904224 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)