rs9694119

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

ST18 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0299 (8983/29964,GnomAD)
C=0390 (11358/29118,TOPMED)
C=0294 (1471/5008,1000G)
C=0169 (653/3854,ALSPAC)
C=0170 (632/3708,TWINSUK)

Position: chr8:52128630 (GRCh38.p7) (8q11.23)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 159 Enhancers around

Promoter: 7 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.52128630T>C
GRCh37.p13 chr 8	NC_000008.10:g.53041190T>C

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=0.324	C=0.676
1000Genomes	American	Sub	694	T=0.840	C=0.160
1000Genomes	East Asian	Sub	1008	T=0.930	C=0.070
1000Genomes	Europe	Sub	1006	T=0.815	C=0.185
1000Genomes	Global	Study-wide	5008	T=0.706	C=0.294
1000Genomes	South Asian	Sub	978	T=0.790	C=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.831	C=0.169
The Genome Aggregation Database	African	Sub	8710	T=0.374	C=0.626
The Genome Aggregation Database	American	Sub	838	T=0.860	C=0.140
The Genome Aggregation Database	East Asian	Sub	1620	T=0.935	C=0.065
The Genome Aggregation Database	Europe	Sub	18494	T=0.826	C=0.173
The Genome Aggregation Database	Global	Study-wide	29964	T=0.700	C=0.299
The Genome Aggregation Database	Other	Sub	302	T=0.700	C=0.300
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.609	C=0.390
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.830	C=0.170

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
rs9694119	0.00027	alcohol dependence	20201924

eQTL of rs9694119 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 rs9694119 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	53059302	53059786	E067	18112
chr8	53059920	53060030	E067	18730
chr8	53063086	53063276	E067	21896
chr8	53063401	53063553	E067	22211
chr8	53063592	53063812	E067	22402
chr8	53063818	53064047	E067	22628
chr8	53064111	53064283	E067	22921
chr8	53064362	53064568	E067	23172
chr8	53064640	53064832	E067	23450
chr8	53064863	53064976	E067	23673
chr8	53085983	53086111	E067	44793
chr8	53087780	53087831	E067	46590
chr8	53087922	53088001	E067	46732
chr8	53088158	53088198	E067	46968
chr8	53085983	53086111	E068	44793
chr8	53086224	53086718	E068	45034
chr8	53086891	53086945	E068	45701
chr8	53087026	53087268	E068	45836
chr8	53087308	53087466	E068	46118
chr8	53087780	53087831	E068	46590
chr8	53087922	53088001	E068	46732
chr8	53088158	53088198	E068	46968
chr8	53037398	53037448	E069	-3742
chr8	53037518	53037679	E069	-3511
chr8	53085983	53086111	E069	44793
chr8	53086224	53086718	E069	45034
chr8	53086891	53086945	E069	45701
chr8	53087026	53087268	E069	45836
chr8	53087308	53087466	E069	46118
chr8	53087780	53087831	E069	46590
chr8	53087922	53088001	E069	46732
chr8	53088158	53088198	E069	46968
chr8	53019609	53019663	E070	-21527
chr8	53024773	53025358	E070	-15832
chr8	53058260	53058310	E070	17070
chr8	53058643	53058693	E070	17453
chr8	53058723	53058792	E070	17533
chr8	53058867	53059256	E070	17677
chr8	53062899	53063077	E070	21709
chr8	53063086	53063276	E070	21896
chr8	53063401	53063553	E070	22211
chr8	53063592	53063812	E070	22402
chr8	53063818	53064047	E070	22628
chr8	53064111	53064283	E070	22921
chr8	53064362	53064568	E070	23172
chr8	53064640	53064832	E070	23450
chr8	53064863	53064976	E070	23673
chr8	53080605	53080655	E070	39415
chr8	53080923	53080984	E070	39733
chr8	53081096	53081179	E070	39906
chr8	53083190	53083240	E070	42000
chr8	53085666	53085727	E070	44476
chr8	53086224	53086718	E070	45034
chr8	53087922	53088001	E070	46732
chr8	53088158	53088198	E070	46968
chr8	53058643	53058693	E071	17453
chr8	53058723	53058792	E071	17533
chr8	53062198	53062279	E071	21008
chr8	53062357	53062423	E071	21167
chr8	53062523	53062633	E071	21333
chr8	53062899	53063077	E071	21709
chr8	53063086	53063276	E071	21896
chr8	53063401	53063553	E071	22211
chr8	53063592	53063812	E071	22402
chr8	53063818	53064047	E071	22628
chr8	53064111	53064283	E071	22921
chr8	53064362	53064568	E071	23172
chr8	53064640	53064832	E071	23450
chr8	53064863	53064976	E071	23673
chr8	53085983	53086111	E071	44793
chr8	53086224	53086718	E071	45034
chr8	53086891	53086945	E071	45701
chr8	53087026	53087268	E071	45836
chr8	53087308	53087466	E071	46118
chr8	53087780	53087831	E071	46590
chr8	53087922	53088001	E071	46732
chr8	53088158	53088198	E071	46968
chr8	53019609	53019663	E072	-21527
chr8	53062523	53062633	E072	21333
chr8	53062899	53063077	E072	21709
chr8	53063086	53063276	E072	21896
chr8	53063401	53063553	E072	22211
chr8	53063592	53063812	E072	22402
chr8	53063818	53064047	E072	22628
chr8	53064111	53064283	E072	22921
chr8	53064362	53064568	E072	23172
chr8	53064640	53064832	E072	23450
chr8	53064863	53064976	E072	23673
chr8	53065794	53065854	E072	24604
chr8	53065874	53065924	E072	24684
chr8	53085983	53086111	E072	44793
chr8	53086224	53086718	E072	45034
chr8	53086891	53086945	E072	45701
chr8	53087026	53087268	E072	45836
chr8	53087308	53087466	E072	46118
chr8	53087780	53087831	E072	46590
chr8	53087922	53088001	E072	46732
chr8	53088158	53088198	E072	46968
chr8	53089089	53089139	E072	47899
chr8	53085983	53086111	E073	44793
chr8	53086224	53086718	E073	45034
chr8	53087780	53087831	E073	46590
chr8	53087922	53088001	E073	46732
chr8	53088158	53088198	E073	46968
chr8	53019609	53019663	E074	-21527
chr8	53020298	53020380	E074	-20810
chr8	53020597	53020669	E074	-20521
chr8	53058643	53058693	E074	17453
chr8	53058723	53058792	E074	17533
chr8	53060255	53060430	E074	19065
chr8	53060618	53060727	E074	19428
chr8	53060820	53060874	E074	19630
chr8	53060999	53061049	E074	19809
chr8	53061121	53061193	E074	19931
chr8	53061331	53061381	E074	20141
chr8	53061578	53062032	E074	20388
chr8	53062198	53062279	E074	21008
chr8	53062357	53062423	E074	21167
chr8	53063086	53063276	E074	21896
chr8	53063401	53063553	E074	22211
chr8	53063592	53063812	E074	22402
chr8	53063818	53064047	E074	22628
chr8	53064111	53064283	E074	22921
chr8	53064362	53064568	E074	23172
chr8	53064640	53064832	E074	23450
chr8	53064863	53064976	E074	23673
chr8	53085983	53086111	E074	44793
chr8	53086224	53086718	E074	45034
chr8	53086891	53086945	E074	45701
chr8	53087026	53087268	E074	45836
chr8	53087308	53087466	E074	46118
chr8	53087780	53087831	E074	46590
chr8	53087922	53088001	E074	46732
chr8	53088158	53088198	E074	46968
chr8	53062899	53063077	E081	21709
chr8	53063086	53063276	E081	21896
chr8	53063401	53063553	E081	22211
chr8	53063592	53063812	E081	22402
chr8	53063818	53064047	E081	22628
chr8	53064111	53064283	E081	22921
chr8	53064362	53064568	E081	23172
chr8	53064640	53064832	E081	23450
chr8	53064863	53064976	E081	23673
chr8	53066670	53066720	E081	25480
chr8	53066770	53067130	E081	25580
chr8	53069266	53069316	E081	28076
chr8	53087780	53087831	E081	46590
chr8	53087922	53088001	E081	46732
chr8	53088158	53088198	E081	46968
chr8	53062523	53062633	E082	21333
chr8	53063592	53063812	E082	22402
chr8	53063818	53064047	E082	22628
chr8	53064111	53064283	E082	22921
chr8	53064362	53064568	E082	23172
chr8	53064640	53064832	E082	23450
chr8	53085983	53086111	E082	44793
chr8	53086224	53086718	E082	45034
chr8	53086891	53086945	E082	45701
chr8	53087026	53087268	E082	45836

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr8	53013447	53013991	E068	-27199
chr8	53013447	53013991	E069	-27199
chr8	53013447	53013991	E070	-27199
chr8	53013447	53013991	E071	-27199
chr8	53013447	53013991	E072	-27199
chr8	53013447	53013991	E074	-27199
chr8	53013447	53013991	E082	-27199