rs4332037

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

MAD1L1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0191 (5727/29892,GnomAD)
T=0165 (4809/29118,TOPMED)
T=0180 (902/5008,1000G)
T=0165 (637/3854,ALSPAC)
T=0170 (631/3708,TWINSUK)

Position: chr7:1911173 (GRCh38.p7) (7p22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 175 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.1911173C>T
GRCh37.p13 chr 7	NC_000007.13:g.1950809C>T
MAD1L1 RefSeqGene	NG_011518.1:g.326775G>A

Gene: MAD1L1, MAD1 mitotic arrest deficient like 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAD1L1 transcript variant 2	NM_001013836.1:c.	N/A	Intron Variant
MAD1L1 transcript variant 3	NM_001013837.1:c.	N/A	Intron Variant
MAD1L1 transcript variant 4	NM_001304523.1:c.	N/A	Intron Variant
MAD1L1 transcript variant 5	NM_001304524.1:c.	N/A	Intron Variant
MAD1L1 transcript variant 6	NM_001304525.1:c.	N/A	Intron Variant
MAD1L1 transcript variant 1	NM_003550.2:c.	N/A	Intron Variant
MAD1L1 transcript variant X4	XM_005249877.1:c.	N/A	Intron Variant
MAD1L1 transcript variant X2	XM_011515567.1:c.	N/A	Intron Variant
MAD1L1 transcript variant X5	XM_011515569.2:c.	N/A	Intron Variant
MAD1L1 transcript variant X8	XM_011515571.1:c.	N/A	Intron Variant
MAD1L1 transcript variant X1	XM_017012690.1:c.	N/A	Intron Variant
MAD1L1 transcript variant X6	XM_017012691.1:c.	N/A	Intron Variant
MAD1L1 transcript variant X4	XM_011515568.2:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.847	T=0.153
1000Genomes	American	Sub	694	C=0.850	T=0.150
1000Genomes	East Asian	Sub	1008	C=0.866	T=0.134
1000Genomes	Europe	Sub	1006	C=0.808	T=0.192
1000Genomes	Global	Study-wide	5008	C=0.820	T=0.180
1000Genomes	South Asian	Sub	978	C=0.720	T=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.835	T=0.165
The Genome Aggregation Database	African	Sub	8710	C=0.839	T=0.161
The Genome Aggregation Database	American	Sub	838	C=0.840	T=0.160
The Genome Aggregation Database	East Asian	Sub	1620	C=0.891	T=0.109
The Genome Aggregation Database	Europe	Sub	18422	C=0.784	T=0.215
The Genome Aggregation Database	Global	Study-wide	29892	C=0.808	T=0.191
The Genome Aggregation Database	Other	Sub	302	C=0.830	T=0.170
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.834	T=0.165
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.830	T=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
21926972	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	-	Nat Genet
23637625	Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate.	Andreassen OA	PLoS Genet

SNP ID	p-value	Traits	Study
rs4332037	0.000463	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
cg10840412	chr1:235813424	GNG4	0.0271162286519154	2.8618e-14

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 )
chr7	1958826	1958919	E067	8017
chr7	1958960	1959045	E067	8151
chr7	1959073	1959178	E067	8264
chr7	1959189	1960847	E067	8380
chr7	1958826	1958919	E068	8017
chr7	1958960	1959045	E068	8151
chr7	1959073	1959178	E068	8264
chr7	1904758	1904817	E069	-45992
chr7	1923444	1923493	E069	-27316
chr7	1923503	1923561	E069	-27248
chr7	1923656	1923838	E069	-26971
chr7	1923905	1924045	E069	-26764
chr7	1956913	1957021	E069	6104
chr7	1957055	1957437	E069	6246
chr7	1958826	1958919	E069	8017
chr7	1958960	1959045	E069	8151
chr7	1959073	1959178	E069	8264
chr7	1959189	1960847	E069	8380
chr7	1907330	1907404	E070	-43405
chr7	1907410	1907482	E070	-43327
chr7	1907618	1907745	E070	-43064
chr7	1929558	1929617	E070	-21192
chr7	1929655	1929717	E070	-21092
chr7	1929771	1929915	E070	-20894
chr7	1931717	1932200	E070	-18609
chr7	1932271	1932421	E070	-18388
chr7	1932531	1932652	E070	-18157
chr7	1932659	1932731	E070	-18078
chr7	1932766	1933045	E070	-17764
chr7	1933264	1933331	E070	-17478
chr7	1939622	1940042	E070	-10767
chr7	1940512	1940552	E070	-10257
chr7	1940740	1940827	E070	-9982
chr7	1949539	1949621	E070	-1188
chr7	1949862	1949912	E070	-897
chr7	1952300	1952914	E070	1491
chr7	1952930	1953021	E070	2121
chr7	1953110	1953401	E070	2301
chr7	1956913	1957021	E070	6104
chr7	1957055	1957437	E070	6246
chr7	1957446	1957578	E070	6637
chr7	1958004	1958058	E070	7195
chr7	1958247	1958346	E070	7438
chr7	1958402	1958470	E070	7593
chr7	1959073	1959178	E070	8264
chr7	1981698	1982146	E070	30889
chr7	1982181	1982284	E070	31372
chr7	1989432	1989482	E070	38623
chr7	1989605	1989686	E070	38796
chr7	1989707	1990003	E070	38898
chr7	1990029	1990163	E070	39220
chr7	1990224	1990281	E070	39415
chr7	1990296	1990336	E070	39487
chr7	1990462	1990555	E070	39653
chr7	1990684	1991202	E070	39875
chr7	1902473	1902643	E071	-48166
chr7	1938753	1939340	E071	-11469
chr7	1952240	1952283	E071	1431
chr7	1952300	1952914	E071	1491
chr7	1958004	1958058	E071	7195
chr7	1958247	1958346	E071	7438
chr7	1958402	1958470	E071	7593
chr7	1958530	1958679	E071	7721
chr7	1958733	1958790	E071	7924
chr7	1958826	1958919	E071	8017
chr7	1958960	1959045	E071	8151
chr7	1959073	1959178	E071	8264
chr7	1959189	1960847	E071	8380
chr7	1938753	1939340	E072	-11469
chr7	1939622	1940042	E072	-10767
chr7	1958530	1958679	E072	7721
chr7	1958733	1958790	E072	7924
chr7	1958826	1958919	E072	8017
chr7	1958960	1959045	E072	8151
chr7	1959073	1959178	E072	8264
chr7	1959189	1960847	E072	8380
chr7	1990462	1990555	E072	39653
chr7	1990684	1991202	E072	39875
chr7	1905317	1905577	E073	-45232
chr7	1958826	1958919	E073	8017
chr7	1958960	1959045	E073	8151
chr7	1959073	1959178	E073	8264
chr7	1959189	1960847	E073	8380
chr7	1990684	1991202	E073	39875
chr7	1938753	1939340	E074	-11469
chr7	1958530	1958679	E074	7721
chr7	1958733	1958790	E074	7924
chr7	1958826	1958919	E074	8017
chr7	1958960	1959045	E074	8151
chr7	1959073	1959178	E074	8264
chr7	1959189	1960847	E074	8380
chr7	1904282	1904427	E081	-46382
chr7	1904758	1904817	E081	-45992
chr7	1905102	1905294	E081	-45515
chr7	1905317	1905577	E081	-45232
chr7	1905609	1905684	E081	-45125
chr7	1915146	1915455	E081	-35354
chr7	1932531	1932652	E081	-18157
chr7	1932659	1932731	E081	-18078
chr7	1932766	1933045	E081	-17764
chr7	1933264	1933331	E081	-17478
chr7	1939622	1940042	E081	-10767
chr7	1940512	1940552	E081	-10257
chr7	1940740	1940827	E081	-9982
chr7	1940907	1940961	E081	-9848
chr7	1941133	1941272	E081	-9537
chr7	1941413	1941479	E081	-9330
chr7	1951567	1951660	E081	758
chr7	1951698	1951903	E081	889
chr7	1951995	1952049	E081	1186
chr7	1952240	1952283	E081	1431
chr7	1952300	1952914	E081	1491
chr7	1952930	1953021	E081	2121
chr7	1953110	1953401	E081	2301
chr7	1956433	1956621	E081	5624
chr7	1956692	1956813	E081	5883
chr7	1956913	1957021	E081	6104
chr7	1957055	1957437	E081	6246
chr7	1957446	1957578	E081	6637
chr7	1958004	1958058	E081	7195
chr7	1958247	1958346	E081	7438
chr7	1958402	1958470	E081	7593
chr7	1958530	1958679	E081	7721
chr7	1958733	1958790	E081	7924
chr7	1958826	1958919	E081	8017
chr7	1958960	1959045	E081	8151
chr7	1959073	1959178	E081	8264
chr7	1959189	1960847	E081	8380
chr7	1961081	1961135	E081	10272
chr7	1963345	1963489	E081	12536
chr7	1968872	1969094	E081	18063
chr7	1973554	1973644	E081	22745
chr7	1973716	1973827	E081	22907
chr7	1973940	1974181	E081	23131
chr7	1984352	1984513	E081	33543
chr7	1985495	1985553	E081	34686
chr7	1985565	1985645	E081	34756
chr7	1985921	1986309	E081	35112
chr7	1986454	1986574	E081	35645
chr7	1986624	1986749	E081	35815
chr7	1986770	1986889	E081	35961
chr7	1986975	1987133	E081	36166
chr7	1987164	1987214	E081	36355
chr7	1987313	1987544	E081	36504
chr7	1987590	1987640	E081	36781
chr7	1992397	1992551	E081	41588
chr7	1992707	1992783	E081	41898
chr7	1905102	1905294	E082	-45515
chr7	1905317	1905577	E082	-45232
chr7	1905609	1905684	E082	-45125
chr7	1939622	1940042	E082	-10767
chr7	1940512	1940552	E082	-10257
chr7	1941413	1941479	E082	-9330
chr7	1952240	1952283	E082	1431
chr7	1952300	1952914	E082	1491
chr7	1952930	1953021	E082	2121
chr7	1956433	1956621	E082	5624
chr7	1956692	1956813	E082	5883
chr7	1956913	1957021	E082	6104
chr7	1957055	1957437	E082	6246
chr7	1957446	1957578	E082	6637
chr7	1958004	1958058	E082	7195
chr7	1959189	1960847	E082	8380
chr7	1963345	1963489	E082	12536
chr7	1963871	1964192	E082	13062
chr7	1973716	1973827	E082	22907
chr7	1973940	1974181	E082	23131
chr7	1974198	1974399	E082	23389
chr7	1985565	1985645	E082	34756
chr7	1985921	1986309	E082	35112
chr7	1986454	1986574	E082	35645
chr7	1986624	1986749	E082	35815
chr7	1986770	1986889	E082	35961
chr7	1986975	1987133	E082	36166
chr7	1990684	1991202	E082	39875

rs4332037

Genomic Coordinates

Gene: MAD1L1, MAD1 mitotic arrest deficient like 1(minus strand)

Population Frequency

P-Value

eQTL of rs4332037 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs4332037 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)