rs12953577

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0426 (12765/29926,GnomAD)
A=0415 (12095/29118,TOPMED)
A=0341 (1709/5008,1000G)
A=0462 (1780/3854,ALSPAC)
A=0478 (1774/3708,TWINSUK)

Position: chr18:79956624 (GRCh38.p7) (18q23)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 323 Enhancers around

Promoter: 30 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 18	NC_000018.10:g.79956624G>A
GRCh37.p13 chr 18	NC_000018.9:g.77716624G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.548	A=0.452
1000Genomes	American	Sub	694	G=0.660	A=0.340
1000Genomes	East Asian	Sub	1008	G=0.874	A=0.126
1000Genomes	Europe	Sub	1006	G=0.552	A=0.448
1000Genomes	Global	Study-wide	5008	G=0.659	A=0.341
1000Genomes	South Asian	Sub	978	G=0.700	A=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.538	A=0.462
The Genome Aggregation Database	African	Sub	8702	G=0.589	A=0.411
The Genome Aggregation Database	American	Sub	838	G=0.660	A=0.340
The Genome Aggregation Database	East Asian	Sub	1618	G=0.870	A=0.130
The Genome Aggregation Database	Europe	Sub	18466	G=0.535	A=0.464
The Genome Aggregation Database	Global	Study-wide	29926	G=0.573	A=0.426
The Genome Aggregation Database	Other	Sub	302	G=0.580	A=0.420
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.584	A=0.415
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.522	A=0.478

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs12953577	0.000916	alcohol dependence	21314694

eQTL of rs12953577 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr18:77716624	RBFADN	ENSG00000261126.3	G>A	1.8371e-21	-90276	Cerebellum
Chr18:77716624	RBFADN	ENSG00000261126.3	G>A	2.3662e-12	-90276	Cortex
Chr18:77716624	RBFADN	ENSG00000261126.3	G>A	1.0885e-18	-90276	Cerebellar_Hemisphere
Chr18:77716624	RBFADN	ENSG00000261126.3	G>A	2.4022e-9	-90276	Hippocampus

meQTL of rs12953577 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
cg05926928	chr17:57297772	GDPD1	0.0218743687058337	2.1591e-10
cg20368463	chr18:77673604	PQLC1	0.0309859082299798	2.1278e-9

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 )
chr18	77672311	77672984	E067	-43640
chr18	77673173	77673356	E067	-43268
chr18	77673391	77673466	E067	-43158
chr18	77684767	77685918	E067	-30706
chr18	77695312	77695392	E067	-21232
chr18	77695536	77695587	E067	-21037
chr18	77695607	77695759	E067	-20865
chr18	77696134	77696234	E067	-20390
chr18	77703781	77703831	E067	-12793
chr18	77703976	77704062	E067	-12562
chr18	77704130	77705416	E067	-11208
chr18	77705519	77705613	E067	-11011
chr18	77705771	77705831	E067	-10793
chr18	77705929	77705988	E067	-10636
chr18	77708125	77708308	E067	-8316
chr18	77708802	77708868	E067	-7756
chr18	77708916	77708997	E067	-7627
chr18	77709052	77709208	E067	-7416
chr18	77709232	77709291	E067	-7333
chr18	77709298	77709348	E067	-7276
chr18	77741802	77742140	E067	25178
chr18	77742163	77742259	E067	25539
chr18	77742499	77742591	E067	25875
chr18	77742684	77743113	E067	26060
chr18	77743217	77743300	E067	26593
chr18	77743320	77743535	E067	26696
chr18	77743759	77743809	E067	27135
chr18	77743875	77744215	E067	27251
chr18	77744690	77744750	E067	28066
chr18	77677854	77677984	E068	-38640
chr18	77684289	77684365	E068	-32259
chr18	77684457	77684528	E068	-32096
chr18	77684633	77684714	E068	-31910
chr18	77684767	77685918	E068	-30706
chr18	77694099	77694968	E068	-21656
chr18	77695312	77695392	E068	-21232
chr18	77695536	77695587	E068	-21037
chr18	77695607	77695759	E068	-20865
chr18	77696134	77696234	E068	-20390
chr18	77701464	77701514	E068	-15110
chr18	77701544	77701725	E068	-14899
chr18	77701806	77702053	E068	-14571
chr18	77702653	77702721	E068	-13903
chr18	77702753	77702847	E068	-13777
chr18	77702908	77703403	E068	-13221
chr18	77703429	77703507	E068	-13117
chr18	77703573	77703733	E068	-12891
chr18	77703781	77703831	E068	-12793
chr18	77703976	77704062	E068	-12562
chr18	77704130	77705416	E068	-11208
chr18	77705519	77705613	E068	-11011
chr18	77705771	77705831	E068	-10793
chr18	77705929	77705988	E068	-10636
chr18	77706561	77706615	E068	-10009
chr18	77707744	77707821	E068	-8803
chr18	77708125	77708308	E068	-8316
chr18	77708802	77708868	E068	-7756
chr18	77708916	77708997	E068	-7627
chr18	77709052	77709208	E068	-7416
chr18	77709232	77709291	E068	-7333
chr18	77709298	77709348	E068	-7276
chr18	77742163	77742259	E068	25539
chr18	77742499	77742591	E068	25875
chr18	77742684	77743113	E068	26060
chr18	77743217	77743300	E068	26593
chr18	77743320	77743535	E068	26696
chr18	77746389	77746433	E068	29765
chr18	77746442	77746492	E068	29818
chr18	77672311	77672984	E069	-43640
chr18	77684767	77685918	E069	-30706
chr18	77694099	77694968	E069	-21656
chr18	77695312	77695392	E069	-21232
chr18	77695536	77695587	E069	-21037
chr18	77695607	77695759	E069	-20865
chr18	77701226	77701276	E069	-15348
chr18	77701464	77701514	E069	-15110
chr18	77701544	77701725	E069	-14899
chr18	77701806	77702053	E069	-14571
chr18	77702653	77702721	E069	-13903
chr18	77702753	77702847	E069	-13777
chr18	77702908	77703403	E069	-13221
chr18	77703429	77703507	E069	-13117
chr18	77703573	77703733	E069	-12891
chr18	77703781	77703831	E069	-12793
chr18	77703976	77704062	E069	-12562
chr18	77704130	77705416	E069	-11208
chr18	77705519	77705613	E069	-11011
chr18	77705771	77705831	E069	-10793
chr18	77705929	77705988	E069	-10636
chr18	77708125	77708308	E069	-8316
chr18	77708802	77708868	E069	-7756
chr18	77708916	77708997	E069	-7627
chr18	77709052	77709208	E069	-7416
chr18	77709232	77709291	E069	-7333
chr18	77709298	77709348	E069	-7276
chr18	77741802	77742140	E069	25178
chr18	77742163	77742259	E069	25539
chr18	77742499	77742591	E069	25875
chr18	77742684	77743113	E069	26060
chr18	77743217	77743300	E069	26593
chr18	77743320	77743535	E069	26696
chr18	77671982	77672208	E070	-44416
chr18	77684457	77684528	E070	-32096
chr18	77684633	77684714	E070	-31910
chr18	77684767	77685918	E070	-30706
chr18	77707744	77707821	E070	-8803
chr18	77708125	77708308	E070	-8316
chr18	77708802	77708868	E070	-7756
chr18	77708916	77708997	E070	-7627
chr18	77709052	77709208	E070	-7416
chr18	77709232	77709291	E070	-7333
chr18	77709298	77709348	E070	-7276
chr18	77740763	77740819	E070	24139
chr18	77746220	77746307	E070	29596
chr18	77746389	77746433	E070	29765
chr18	77673173	77673356	E071	-43268
chr18	77673391	77673466	E071	-43158
chr18	77673531	77673711	E071	-42913
chr18	77684767	77685918	E071	-30706
chr18	77686009	77686093	E071	-30531
chr18	77694099	77694968	E071	-21656
chr18	77695536	77695587	E071	-21037
chr18	77695607	77695759	E071	-20865
chr18	77702653	77702721	E071	-13903
chr18	77702753	77702847	E071	-13777
chr18	77703781	77703831	E071	-12793
chr18	77703976	77704062	E071	-12562
chr18	77704130	77705416	E071	-11208
chr18	77705519	77705613	E071	-11011
chr18	77705771	77705831	E071	-10793
chr18	77705929	77705988	E071	-10636
chr18	77706561	77706615	E071	-10009
chr18	77708125	77708308	E071	-8316
chr18	77708802	77708868	E071	-7756
chr18	77708916	77708997	E071	-7627
chr18	77709052	77709208	E071	-7416
chr18	77709232	77709291	E071	-7333
chr18	77709298	77709348	E071	-7276
chr18	77715124	77715177	E071	-1447
chr18	77740763	77740819	E071	24139
chr18	77742163	77742259	E071	25539
chr18	77742499	77742591	E071	25875
chr18	77742684	77743113	E071	26060
chr18	77743217	77743300	E071	26593
chr18	77743320	77743535	E071	26696
chr18	77743759	77743809	E071	27135
chr18	77671982	77672208	E072	-44416
chr18	77672311	77672984	E072	-43640
chr18	77673173	77673356	E072	-43268
chr18	77684767	77685918	E072	-30706
chr18	77694099	77694968	E072	-21656
chr18	77695312	77695392	E072	-21232
chr18	77695536	77695587	E072	-21037
chr18	77701226	77701276	E072	-15348
chr18	77701464	77701514	E072	-15110
chr18	77701544	77701725	E072	-14899
chr18	77701806	77702053	E072	-14571
chr18	77703976	77704062	E072	-12562
chr18	77704130	77705416	E072	-11208
chr18	77705519	77705613	E072	-11011
chr18	77705771	77705831	E072	-10793
chr18	77705929	77705988	E072	-10636
chr18	77706561	77706615	E072	-10009
chr18	77706876	77706988	E072	-9636
chr18	77707048	77707461	E072	-9163
chr18	77708125	77708308	E072	-8316
chr18	77708802	77708868	E072	-7756
chr18	77708916	77708997	E072	-7627
chr18	77709052	77709208	E072	-7416
chr18	77709232	77709291	E072	-7333
chr18	77709298	77709348	E072	-7276
chr18	77723892	77723970	E072	7268
chr18	77724003	77724083	E072	7379
chr18	77736062	77736271	E072	19438
chr18	77736335	77736385	E072	19711
chr18	77741802	77742140	E072	25178
chr18	77742163	77742259	E072	25539
chr18	77742499	77742591	E072	25875
chr18	77742684	77743113	E072	26060
chr18	77743217	77743300	E072	26593
chr18	77743320	77743535	E072	26696
chr18	77743759	77743809	E072	27135
chr18	77746389	77746433	E072	29765
chr18	77746442	77746492	E072	29818
chr18	77670725	77670812	E073	-45812
chr18	77671095	77671212	E073	-45412
chr18	77671982	77672208	E073	-44416
chr18	77672311	77672984	E073	-43640
chr18	77673173	77673356	E073	-43268
chr18	77684767	77685918	E073	-30706
chr18	77686009	77686093	E073	-30531
chr18	77686553	77686644	E073	-29980
chr18	77686878	77686958	E073	-29666
chr18	77694099	77694968	E073	-21656
chr18	77695312	77695392	E073	-21232
chr18	77695536	77695587	E073	-21037
chr18	77695607	77695759	E073	-20865
chr18	77696134	77696234	E073	-20390
chr18	77700815	77700865	E073	-15759
chr18	77700893	77700943	E073	-15681
chr18	77701226	77701276	E073	-15348
chr18	77701464	77701514	E073	-15110
chr18	77701544	77701725	E073	-14899
chr18	77701806	77702053	E073	-14571
chr18	77702653	77702721	E073	-13903
chr18	77702753	77702847	E073	-13777
chr18	77702908	77703403	E073	-13221
chr18	77703429	77703507	E073	-13117
chr18	77703573	77703733	E073	-12891
chr18	77703781	77703831	E073	-12793
chr18	77703976	77704062	E073	-12562
chr18	77704130	77705416	E073	-11208
chr18	77705519	77705613	E073	-11011
chr18	77705771	77705831	E073	-10793
chr18	77705929	77705988	E073	-10636
chr18	77706561	77706615	E073	-10009
chr18	77707048	77707461	E073	-9163
chr18	77707463	77707503	E073	-9121
chr18	77707532	77707603	E073	-9021
chr18	77707639	77707696	E073	-8928
chr18	77707744	77707821	E073	-8803
chr18	77708125	77708308	E073	-8316
chr18	77708802	77708868	E073	-7756
chr18	77708916	77708997	E073	-7627
chr18	77709052	77709208	E073	-7416
chr18	77709232	77709291	E073	-7333
chr18	77709298	77709348	E073	-7276
chr18	77724003	77724083	E073	7379
chr18	77742499	77742591	E073	25875
chr18	77742684	77743113	E073	26060
chr18	77743217	77743300	E073	26593
chr18	77684767	77685918	E074	-30706
chr18	77694099	77694968	E074	-21656
chr18	77695312	77695392	E074	-21232
chr18	77695536	77695587	E074	-21037
chr18	77695607	77695759	E074	-20865
chr18	77696134	77696234	E074	-20390
chr18	77701806	77702053	E074	-14571
chr18	77702653	77702721	E074	-13903
chr18	77702753	77702847	E074	-13777
chr18	77702908	77703403	E074	-13221
chr18	77704130	77705416	E074	-11208
chr18	77705519	77705613	E074	-11011
chr18	77705771	77705831	E074	-10793
chr18	77705929	77705988	E074	-10636
chr18	77707463	77707503	E074	-9121
chr18	77707532	77707603	E074	-9021
chr18	77707639	77707696	E074	-8928
chr18	77707744	77707821	E074	-8803
chr18	77708125	77708308	E074	-8316
chr18	77708802	77708868	E074	-7756
chr18	77708916	77708997	E074	-7627
chr18	77709052	77709208	E074	-7416
chr18	77709232	77709291	E074	-7333
chr18	77709298	77709348	E074	-7276
chr18	77733642	77733719	E074	17018
chr18	77733764	77733820	E074	17140
chr18	77733885	77733984	E074	17261
chr18	77736062	77736271	E074	19438
chr18	77736335	77736385	E074	19711
chr18	77741802	77742140	E074	25178
chr18	77742163	77742259	E074	25539
chr18	77742499	77742591	E074	25875
chr18	77742684	77743113	E074	26060
chr18	77743217	77743300	E074	26593
chr18	77743320	77743535	E074	26696
chr18	77743759	77743809	E074	27135
chr18	77746220	77746307	E074	29596
chr18	77746389	77746433	E074	29765
chr18	77746442	77746492	E074	29818
chr18	77671982	77672208	E081	-44416
chr18	77684078	77684222	E081	-32402
chr18	77684289	77684365	E081	-32259
chr18	77684457	77684528	E081	-32096
chr18	77684633	77684714	E081	-31910
chr18	77684767	77685918	E081	-30706
chr18	77686009	77686093	E081	-30531
chr18	77686553	77686644	E081	-29980
chr18	77686878	77686958	E081	-29666
chr18	77687058	77687221	E081	-29403
chr18	77687255	77687343	E081	-29281
chr18	77687351	77687401	E081	-29223
chr18	77687502	77687686	E081	-28938
chr18	77687706	77687923	E081	-28701
chr18	77688139	77688271	E081	-28353
chr18	77694099	77694968	E081	-21656
chr18	77705929	77705988	E081	-10636
chr18	77708802	77708868	E081	-7756
chr18	77708916	77708997	E081	-7627
chr18	77709052	77709208	E081	-7416
chr18	77709232	77709291	E081	-7333
chr18	77709298	77709348	E081	-7276
chr18	77713456	77713619	E081	-3005
chr18	77724003	77724083	E081	7379
chr18	77746220	77746307	E081	29596
chr18	77746389	77746433	E081	29765
chr18	77746442	77746492	E081	29818
chr18	77684078	77684222	E082	-32402
chr18	77684289	77684365	E082	-32259
chr18	77684457	77684528	E082	-32096
chr18	77686009	77686093	E082	-30531
chr18	77686553	77686644	E082	-29980
chr18	77686878	77686958	E082	-29666
chr18	77687058	77687221	E082	-29403
chr18	77687255	77687343	E082	-29281
chr18	77687351	77687401	E082	-29223
chr18	77704130	77705416	E082	-11208
chr18	77705519	77705613	E082	-11011
chr18	77705771	77705831	E082	-10793
chr18	77707048	77707461	E082	-9163
chr18	77707463	77707503	E082	-9121
chr18	77707532	77707603	E082	-9021
chr18	77707639	77707696	E082	-8928
chr18	77707744	77707821	E082	-8803
chr18	77708125	77708308	E082	-8316
chr18	77708802	77708868	E082	-7756
chr18	77708916	77708997	E082	-7627
chr18	77709052	77709208	E082	-7416
chr18	77709232	77709291	E082	-7333
chr18	77709298	77709348	E082	-7276
chr18	77713456	77713619	E082	-3005
chr18	77715996	77716056	E082	-568
chr18	77721505	77721564	E082	4881

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr18	77709659	77712806	E067	-3818
chr18	77724236	77725928	E067	7612
chr18	77747679	77749300	E067	31055
chr18	77709659	77712806	E068	-3818
chr18	77724236	77725928	E068	7612
chr18	77747679	77749300	E068	31055
chr18	77709659	77712806	E069	-3818
chr18	77724236	77725928	E069	7612
chr18	77747679	77749300	E069	31055
chr18	77709659	77712806	E070	-3818
chr18	77712841	77712925	E070	-3699
chr18	77724236	77725928	E070	7612
chr18	77747679	77749300	E070	31055
chr18	77709659	77712806	E071	-3818
chr18	77724236	77725928	E071	7612
chr18	77747679	77749300	E071	31055
chr18	77709659	77712806	E072	-3818
chr18	77724236	77725928	E072	7612
chr18	77747679	77749300	E072	31055
chr18	77709659	77712806	E073	-3818
chr18	77712841	77712925	E073	-3699
chr18	77724236	77725928	E073	7612
chr18	77747679	77749300	E073	31055
chr18	77709659	77712806	E074	-3818
chr18	77724236	77725928	E074	7612
chr18	77747679	77749300	E074	31055
chr18	77747679	77749300	E081	31055
chr18	77709659	77712806	E082	-3818
chr18	77724236	77725928	E082	7612
chr18	77747679	77749300	E082	31055