rs3815868

Organism: Homo sapiens

Alleles: T>C / T>G

Gene : Feature

ST18 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0308 (9235/29942,GnomAD)
C=0396 (11554/29118,TOPMED)
C=0297 (1486/5008,1000G)
C=0175 (674/3854,ALSPAC)
C=0176 (654/3708,TWINSUK)

Position: chr8:52136477 (GRCh38.p7) (8q11.23)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 177 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.52136477T>C
GRCh38.p7 chr 8	NC_000008.11:g.52136477T>G
GRCh37.p13 chr 8	NC_000008.10:g.53049037T>C
GRCh37.p13 chr 8	NC_000008.10:g.53049037T>G

Gene: ST18, suppression of tumorigenicity 18, zinc finger(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ST18 transcript variant 1	NM_014682.2:c.	N/A	Intron Variant
ST18 transcript variant X9	XM_006716487.1:c.	N/A	Intron Variant
ST18 transcript variant X2	XM_011517629.1:c.	N/A	Intron Variant
ST18 transcript variant X12	XM_011517631.1:c.	N/A	Intron Variant
ST18 transcript variant X3	XM_011517632.1:c.	N/A	Intron Variant
ST18 transcript variant X4	XM_011517633.1:c.	N/A	Intron Variant
ST18 transcript variant X11	XM_011517634.1:c.	N/A	Intron Variant
ST18 transcript variant X2	XM_011517635.1:c.	N/A	Intron Variant
ST18 transcript variant X7	XM_011517636.2:c.	N/A	Intron Variant
ST18 transcript variant X5	XM_011517637.1:c.	N/A	Intron Variant
ST18 transcript variant X33	XM_011517638.2:c.	N/A	Intron Variant
ST18 transcript variant X6	XM_011517641.1:c.	N/A	Intron Variant
ST18 transcript variant X7	XM_011517642.1:c.	N/A	Intron Variant
ST18 transcript variant X1	XM_017014047.1:c.	N/A	Intron Variant
ST18 transcript variant X5	XM_017014048.1:c.	N/A	Intron Variant
ST18 transcript variant X6	XM_017014049.1:c.	N/A	Intron Variant
ST18 transcript variant X8	XM_017014050.1:c.	N/A	Intron Variant
ST18 transcript variant X10	XM_017014051.1:c.	N/A	Intron Variant
ST18 transcript variant X13	XM_017014052.1:c.	N/A	Intron Variant
ST18 transcript variant X14	XM_017014053.1:c.	N/A	Intron Variant
ST18 transcript variant X15	XM_017014054.1:c.	N/A	Intron Variant
ST18 transcript variant X16	XM_017014055.1:c.	N/A	Intron Variant
ST18 transcript variant X17	XM_017014056.1:c.	N/A	Intron Variant
ST18 transcript variant X18	XM_017014057.1:c.	N/A	Intron Variant
ST18 transcript variant X1	XM_017014058.1:c.	N/A	Intron Variant
ST18 transcript variant X20	XM_017014059.1:c.	N/A	Intron Variant
ST18 transcript variant X21	XM_017014060.1:c.	N/A	Intron Variant
ST18 transcript variant X22	XM_017014061.1:c.	N/A	Intron Variant
ST18 transcript variant X23	XM_017014062.1:c.	N/A	Intron Variant
ST18 transcript variant X24	XM_017014063.1:c.	N/A	Intron Variant
ST18 transcript variant X25	XM_017014064.1:c.	N/A	Intron Variant
ST18 transcript variant X27	XM_017014065.1:c.	N/A	Intron Variant
ST18 transcript variant X28	XM_017014066.1:c.	N/A	Intron Variant
ST18 transcript variant X29	XM_017014067.1:c.	N/A	Intron Variant
ST18 transcript variant X30	XM_017014068.1:c.	N/A	Intron Variant
ST18 transcript variant X32	XM_017014069.1:c.	N/A	Intron Variant
ST18 transcript variant X34	XM_017014070.1:c.	N/A	Intron Variant
ST18 transcript variant X35	XM_017014071.1:c.	N/A	Intron Variant
ST18 transcript variant X36	XM_017014072.1:c.	N/A	Intron Variant
ST18 transcript variant X37	XM_017014073.1:c.	N/A	Intron Variant
ST18 transcript variant X38	XM_017014074.1:c.	N/A	Intron Variant
ST18 transcript variant X40	XM_017014075.1:c.	N/A	Intron Variant
ST18 transcript variant X41	XM_017014076.1:c.	N/A	Intron Variant
ST18 transcript variant X42	XM_017014077.1:c.	N/A	Intron Variant
ST18 transcript variant X43	XM_017014078.1:c.	N/A	Intron Variant
ST18 transcript variant X44	XM_017014079.1:c.	N/A	Intron Variant
ST18 transcript variant X45	XM_017014080.1:c.	N/A	Intron Variant
ST18 transcript variant X47	XM_017014081.1:c.	N/A	Intron Variant
ST18 transcript variant X48	XM_017014082.1:c.	N/A	Intron Variant
ST18 transcript variant X49	XM_017014083.1:c.	N/A	Intron Variant
ST18 transcript variant X50	XM_017014084.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.301	C=0.699
1000Genomes	American	Sub	694	T=0.840	C=0.160
1000Genomes	East Asian	Sub	1008	T=0.950	C=0.050
1000Genomes	Europe	Sub	1006	T=0.812	C=0.188
1000Genomes	Global	Study-wide	5008	T=0.703	C=0.297
1000Genomes	South Asian	Sub	978	T=0.780	C=0.220
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.825	C=0.175
The Genome Aggregation Database	African	Sub	8702	T=0.353	C=0.647
The Genome Aggregation Database	American	Sub	838	T=0.860	C=0.140
The Genome Aggregation Database	East Asian	Sub	1618	T=0.953	C=0.047
The Genome Aggregation Database	Europe	Sub	18484	T=0.820	C=0.179
The Genome Aggregation Database	Global	Study-wide	29942	T=0.691	C=0.308
The Genome Aggregation Database	Other	Sub	300	T=0.680	C=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.603	C=0.396
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.824	C=0.176

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs3815868	0.00034	alcohol dependence	20201924

eQTL of rs3815868 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 rs3815868 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 )
chr8	102243921	102244315	E067	-47262
chr8	102244393	102244433	E067	-47144
chr8	102253388	102253645	E067	-37932
chr8	102253680	102253776	E067	-37801
chr8	102279968	102280243	E067	-11334
chr8	102280295	102280604	E067	-10973
chr8	102280662	102280712	E067	-10865
chr8	102289163	102289213	E067	-2364
chr8	102289274	102289483	E067	-2094
chr8	102289502	102289619	E067	-1958
chr8	102289684	102289744	E067	-1833
chr8	102289944	102290696	E067	-881
chr8	102312748	102312859	E067	21171
chr8	102312922	102313135	E067	21345
chr8	102313159	102313222	E067	21582
chr8	102313259	102313326	E067	21682
chr8	102313380	102314445	E067	21803
chr8	102243921	102244315	E068	-47262
chr8	102244393	102244433	E068	-47144
chr8	102245008	102245058	E068	-46519
chr8	102245422	102245915	E068	-45662
chr8	102246023	102246124	E068	-45453
chr8	102246217	102246585	E068	-44992
chr8	102253072	102253132	E068	-38445
chr8	102253208	102253264	E068	-38313
chr8	102253388	102253645	E068	-37932
chr8	102253680	102253776	E068	-37801
chr8	102257476	102258283	E068	-33294
chr8	102288206	102288475	E068	-3102
chr8	102288668	102288739	E068	-2838
chr8	102288803	102289156	E068	-2421
chr8	102289163	102289213	E068	-2364
chr8	102289274	102289483	E068	-2094
chr8	102289502	102289619	E068	-1958
chr8	102289684	102289744	E068	-1833
chr8	102243921	102244315	E069	-47262
chr8	102244393	102244433	E069	-47144
chr8	102253072	102253132	E069	-38445
chr8	102253208	102253264	E069	-38313
chr8	102253388	102253645	E069	-37932
chr8	102288206	102288475	E069	-3102
chr8	102288668	102288739	E069	-2838
chr8	102288803	102289156	E069	-2421
chr8	102289163	102289213	E069	-2364
chr8	102289274	102289483	E069	-2094
chr8	102290814	102291097	E069	-480
chr8	102292664	102292718	E069	1087
chr8	102292904	102293184	E069	1327
chr8	102312236	102312721	E069	20659
chr8	102312748	102312859	E069	21171
chr8	102312922	102313135	E069	21345
chr8	102313159	102313222	E069	21582
chr8	102313259	102313326	E069	21682
chr8	102313380	102314445	E069	21803
chr8	102243921	102244315	E070	-47262
chr8	102244393	102244433	E070	-47144
chr8	102245008	102245058	E070	-46519
chr8	102245422	102245915	E070	-45662
chr8	102246023	102246124	E070	-45453
chr8	102246217	102246585	E070	-44992
chr8	102292437	102292491	E070	860
chr8	102292664	102292718	E070	1087
chr8	102292904	102293184	E070	1327
chr8	102293283	102293333	E070	1706
chr8	102243921	102244315	E071	-47262
chr8	102244393	102244433	E071	-47144
chr8	102281447	102281696	E071	-9881
chr8	102289163	102289213	E071	-2364
chr8	102289274	102289483	E071	-2094
chr8	102289502	102289619	E071	-1958
chr8	102289684	102289744	E071	-1833
chr8	102289944	102290696	E071	-881
chr8	102292664	102292718	E071	1087
chr8	102312922	102313135	E071	21345
chr8	102313159	102313222	E071	21582
chr8	102313259	102313326	E071	21682
chr8	102313380	102314445	E071	21803
chr8	102253072	102253132	E072	-38445
chr8	102253208	102253264	E072	-38313
chr8	102253388	102253645	E072	-37932
chr8	102279968	102280243	E072	-11334
chr8	102280295	102280604	E072	-10973
chr8	102280662	102280712	E072	-10865
chr8	102281447	102281696	E072	-9881
chr8	102288668	102288739	E072	-2838
chr8	102288803	102289156	E072	-2421
chr8	102289163	102289213	E072	-2364
chr8	102289944	102290696	E072	-881
chr8	102312748	102312859	E072	21171
chr8	102312922	102313135	E072	21345
chr8	102313159	102313222	E072	21582
chr8	102313259	102313326	E072	21682
chr8	102313380	102314445	E072	21803
chr8	102264329	102264427	E073	-27150
chr8	102264648	102265139	E073	-26438
chr8	102281447	102281696	E073	-9881
chr8	102288206	102288475	E073	-3102
chr8	102288668	102288739	E073	-2838
chr8	102288803	102289156	E073	-2421
chr8	102289163	102289213	E073	-2364
chr8	102289274	102289483	E073	-2094
chr8	102289502	102289619	E073	-1958
chr8	102289684	102289744	E073	-1833
chr8	102289944	102290696	E073	-881
chr8	102299796	102301197	E073	8219
chr8	102306517	102307293	E073	14940
chr8	102312748	102312859	E073	21171
chr8	102312922	102313135	E073	21345
chr8	102313159	102313222	E073	21582
chr8	102313259	102313326	E073	21682
chr8	102313380	102314445	E073	21803
chr8	102243921	102244315	E074	-47262
chr8	102244393	102244433	E074	-47144
chr8	102253388	102253645	E074	-37932
chr8	102253680	102253776	E074	-37801
chr8	102289163	102289213	E074	-2364
chr8	102289274	102289483	E074	-2094
chr8	102289502	102289619	E074	-1958
chr8	102289684	102289744	E074	-1833
chr8	102289944	102290696	E074	-881
chr8	102290814	102291097	E074	-480
chr8	102312748	102312859	E074	21171
chr8	102312922	102313135	E074	21345
chr8	102313159	102313222	E074	21582
chr8	102313259	102313326	E074	21682
chr8	102243921	102244315	E081	-47262
chr8	102244393	102244433	E081	-47144
chr8	102245008	102245058	E081	-46519
chr8	102245422	102245915	E081	-45662
chr8	102253072	102253132	E081	-38445
chr8	102253208	102253264	E081	-38313
chr8	102253388	102253645	E081	-37932
chr8	102257476	102258283	E081	-33294
chr8	102261300	102261478	E081	-30099
chr8	102261489	102261598	E081	-29979
chr8	102261728	102261787	E081	-29790
chr8	102261868	102261922	E081	-29655
chr8	102263237	102263415	E081	-28162
chr8	102279968	102280243	E081	-11334
chr8	102288206	102288475	E081	-3102
chr8	102288668	102288739	E081	-2838
chr8	102288803	102289156	E081	-2421
chr8	102289163	102289213	E081	-2364
chr8	102289274	102289483	E081	-2094
chr8	102289502	102289619	E081	-1958
chr8	102289684	102289744	E081	-1833
chr8	102289944	102290696	E081	-881
chr8	102290814	102291097	E081	-480
chr8	102291293	102291343	E081	-234
chr8	102292904	102293184	E081	1327
chr8	102299265	102299693	E081	7688
chr8	102299796	102301197	E081	8219
chr8	102306007	102306253	E081	14430
chr8	102306517	102307293	E081	14940
chr8	102307424	102307482	E081	15847
chr8	102307576	102307910	E081	15999
chr8	102307993	102308129	E081	16416
chr8	102312922	102313135	E081	21345
chr8	102313159	102313222	E081	21582
chr8	102313259	102313326	E081	21682
chr8	102313380	102314445	E081	21803
chr8	102325544	102325932	E081	33967
chr8	102339144	102339725	E081	47567
chr8	102339825	102340110	E081	48248
chr8	102340171	102340343	E081	48594
chr8	102243921	102244315	E082	-47262
chr8	102244393	102244433	E082	-47144
chr8	102288668	102288739	E082	-2838
chr8	102288803	102289156	E082	-2421
chr8	102289163	102289213	E082	-2364
chr8	102289274	102289483	E082	-2094
chr8	102289502	102289619	E082	-1958
chr8	102289684	102289744	E082	-1833
chr8	102289944	102290696	E082	-881
chr8	102292437	102292491	E082	860
chr8	102299796	102301197	E082	8219
chr8	102302040	102302176	E082	10463