SNP Detail Info-rs6500918

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.7136901G>T
GRCh37.p13 chr 16	NC_000016.9:g.7186902G>T
RBFOX1 RefSeqGene	NG_011881.1:g.1122771G>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	G=0.324	T=0.676
1000Genomes	American	Sub	694	G=0.180	T=0.820
1000Genomes	East Asian	Sub	1008	G=0.233	T=0.767
1000Genomes	Europe	Sub	1006	G=0.210	T=0.790
1000Genomes	Global	Study-wide	5008	G=0.241	T=0.759
1000Genomes	South Asian	Sub	978	G=0.220	T=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.233	T=0.767
The Genome Aggregation Database	African	Sub	8692	G=0.310	T=0.690
The Genome Aggregation Database	American	Sub	838	G=0.170	T=0.830
The Genome Aggregation Database	East Asian	Sub	1616	G=0.230	T=0.770
The Genome Aggregation Database	Europe	Sub	18464	G=0.204	T=0.795
The Genome Aggregation Database	Global	Study-wide	29912	G=0.236	T=0.763
The Genome Aggregation Database	Other	Sub	302	G=0.230	T=0.770
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.255	T=0.744
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.230	T=0.770

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
rs6500918	1.33E-05	alcohol consumption	23743675

eQTL of rs6500918 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 rs6500918 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	-39556
chr16	7147630	7147777	E071	-39125
chr16	7147940	7148010	E071	-38892
chr16	7183855	7183915	E081	-2987
chr16	7211195	7211253	E081	24293
chr16	7211255	7211299	E081	24353
chr16	7211674	7211995	E081	24772
chr16	7212062	7212138	E081	25160
chr16	7212933	7212995	E081	26031
chr16	7213373	7213413	E081	26471
chr16	7217643	7218166	E081	30741
chr16	7218797	7218856	E081	31895
chr16	7140709	7140836	E082	-46066
chr16	7140867	7141113	E082	-45789
chr16	7209609	7209740	E082	22707
chr16	7211255	7211299	E082	24353
chr16	7212062	7212138	E082	25160

rs6500918

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs6500918 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs6500918 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)