SNP Detail Info-rs75686122

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.103561561C>A
GRCh38.p7 chr 8	NC_000008.11:g.103561561C>T
GRCh37.p13 chr 8	NC_000008.10:g.104573789C>A
GRCh37.p13 chr 8	NC_000008.10:g.104573789C>T

Gene: RIMS2, regulating synaptic membrane exocytosis 2(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RIMS2 transcript variant 1	NM_001100117.2:c.	N/A	Intron Variant
RIMS2 transcript variant 3	NM_001282881.1:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant 4	NM_001282882.1:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant 2	NM_014677.4:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant X17	XM_005251106.3:c.	N/A	Intron Variant
RIMS2 transcript variant X19	XM_005251107.3:c.	N/A	Intron Variant
RIMS2 transcript variant X1	XM_011517395.2:c.	N/A	Intron Variant
RIMS2 transcript variant X21	XM_011517398.2:c.	N/A	Intron Variant
RIMS2 transcript variant X2	XM_017014006.1:c.	N/A	Intron Variant
RIMS2 transcript variant X3	XM_017014007.1:c.	N/A	Intron Variant
RIMS2 transcript variant X4	XM_017014008.1:c.	N/A	Intron Variant
RIMS2 transcript variant X5	XM_017014009.1:c.	N/A	Intron Variant
RIMS2 transcript variant X6	XM_017014010.1:c.	N/A	Intron Variant
RIMS2 transcript variant X7	XM_017014011.1:c.	N/A	Intron Variant
RIMS2 transcript variant X8	XM_017014012.1:c.	N/A	Intron Variant
RIMS2 transcript variant X9	XM_017014013.1:c.	N/A	Intron Variant
RIMS2 transcript variant X13	XM_017014014.1:c.	N/A	Intron Variant
RIMS2 transcript variant X11	XM_017014015.1:c.	N/A	Intron Variant
RIMS2 transcript variant X12	XM_017014016.1:c.	N/A	Intron Variant
RIMS2 transcript variant X14	XM_017014017.1:c.	N/A	Intron Variant
RIMS2 transcript variant X16	XM_017014018.1:c.	N/A	Intron Variant
RIMS2 transcript variant X17	XM_017014019.1:c.	N/A	Intron Variant
RIMS2 transcript variant X18	XM_017014020.1:c.	N/A	Intron Variant
RIMS2 transcript variant X19	XM_017014021.1:c.	N/A	Intron Variant
RIMS2 transcript variant X22	XM_017014023.1:c.	N/A	Intron Variant
RIMS2 transcript variant X23	XM_017014024.1:c.	N/A	Intron Variant
RIMS2 transcript variant X24	XM_017014025.1:c.	N/A	Intron Variant
RIMS2 transcript variant X25	XM_017014026.1:c.	N/A	Intron Variant
RIMS2 transcript variant X26	XM_017014027.1:c.	N/A	Intron Variant
RIMS2 transcript variant X27	XM_017014028.1:c.	N/A	Intron Variant
RIMS2 transcript variant X28	XM_017014029.1:c.	N/A	Intron Variant
RIMS2 transcript variant X29	XM_017014030.1:c.	N/A	Intron Variant
RIMS2 transcript variant X30	XM_017014031.1:c.	N/A	Intron Variant
RIMS2 transcript variant X31	XM_017014032.1:c.	N/A	Intron Variant
RIMS2 transcript variant X32	XM_017014033.1:c.	N/A	Intron Variant
RIMS2 transcript variant X33	XM_017014034.1:c.	N/A	Intron Variant
RIMS2 transcript variant X34	XM_017014035.1:c.	N/A	Intron Variant
RIMS2 transcript variant X36	XM_017014037.1:c.	N/A	Intron Variant
RIMS2 transcript variant X37	XM_017014038.1:c.	N/A	Intron Variant
RIMS2 transcript variant X38	XM_017014039.1:c.	N/A	Intron Variant
RIMS2 transcript variant X41	XM_017014042.1:c.	N/A	Intron Variant
RIMS2 transcript variant X31	XM_006716698.3:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant X22	XM_017014022.1:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant X30	XM_017014036.1:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant X39	XM_017014040.1:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant X40	XM_017014041.1:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant X42	XM_017014043.1:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant X43	XM_017014044.1:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant X44	XM_017014045.1:c.	N/A	Genic Upstream Transcript Variant
RIMS2 transcript variant X45	XM_017014046.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.957	A=0.015
1000Genomes	American	Sub	694	C=0.960	A=0.04,
1000Genomes	East Asian	Sub	1008	C=0.944	A=0.056
1000Genomes	Europe	Sub	1006	C=0.908	A=0.092
1000Genomes	Global	Study-wide	5008	C=0.937	A=0.056
1000Genomes	South Asian	Sub	978	C=0.910	A=0.09,
The Genome Aggregation Database	African	Sub	8720	C=0.953	T=0.019
The Genome Aggregation Database	American	Sub	834	C=0.960	T=0.00,
The Genome Aggregation Database	East Asian	Sub	1618	C=0.961	T=0.000
The Genome Aggregation Database	Europe	Sub	18450	C=0.910	T=0.000
The Genome Aggregation Database	Global	Study-wide	29924	C=0.927	T=0.005
The Genome Aggregation Database	Other	Sub	302	C=0.940	T=0.00,

PMID	Title	Author	Journal
23958962	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Gelernter J	Mol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs75686122	0.000003	cocaine dependence,AA	23958962
rs75686122	0.00013	cocaine dependence	23958962

eQTL of rs75686122 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr8:104573789	RP11-1C8.7	ENSG00000271830.1	C>A	5.7400e-26	79942	Cerebellum
Chr8:104573789	RP11-1C8.4	ENSG00000253477.1	C>A	9.2170e-19	59885	Cerebellum
Chr8:104573789	RP11-1C8.7	ENSG00000271830.1	C>A	6.0352e-18	79942	Cerebellar_Hemisphere
Chr8:104573789	RP11-1C8.4	ENSG00000253477.1	C>A	2.5560e-10	59885	Cerebellar_Hemisphere
Chr8:104573789	RP11-1C8.7	ENSG00000271830.1	C>A	5.8753e-14	79942	Caudate_basal_ganglia

meQTL of rs75686122 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 )
chr8	62505600	62505977	E067	-45913
chr8	62521630	62521704	E069	-30186
chr8	62505600	62505977	E070	-45913
chr8	62506017	62506430	E070	-45460
chr8	62506499	62506725	E070	-45165
chr8	62522802	62522884	E070	-29006
chr8	62601079	62601576	E071	49189
chr8	62504932	62505016	E081	-46874
chr8	62505096	62505155	E081	-46735
chr8	62505347	62505397	E081	-46493
chr8	62505600	62505977	E081	-45913
chr8	62506017	62506430	E081	-45460
chr8	62506499	62506725	E081	-45165
chr8	62505600	62505977	E082	-45913
chr8	62506017	62506430	E082	-45460
chr8	62506499	62506725	E082	-45165
chr8	62506991	62507049	E082	-44841
chr8	62507715	62508043	E082	-43847
chr8	62508317	62508508	E082	-43382

rs75686122

Genomic Coordinates

Gene: RIMS2, regulating synaptic membrane exocytosis 2(plus strand)

Population Frequency

P-Value

eQTL of rs75686122 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs75686122 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)