rs178260

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

AIFM3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0149 (4456/29902,GnomAD)
T=0143 (4183/29116,TOPMED)
T=0218 (1090/5008,1000G)
T=0127 (491/3854,ALSPAC)
T=0131 (486/3708,TWINSUK)

Position: chr22:20970019 (GRCh38.p7) (22q11.21)

Phenotype: ND

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 358 Enhancers around

Promoter: 51 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 22	NC_000022.11:g.20970019G>T
GRCh37.p13 chr 22	NC_000022.10:g.21324308G>T

Gene: AIFM3, apoptosis inducing factor, mitochondria associated 3(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AIFM3 transcript variant 2	NM_001018060.2:c.	N/A	Intron Variant
AIFM3 transcript variant 3	NM_001146288.1:c.	N/A	Intron Variant
AIFM3 transcript variant 1	NM_144704.2:c.	N/A	Intron Variant
AIFM3 transcript variant 4	NR_027464.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.846	T=0.154
1000Genomes	American	Sub	694	G=0.760	T=0.240
1000Genomes	East Asian	Sub	1008	G=0.579	T=0.421
1000Genomes	Europe	Sub	1006	G=0.889	T=0.111
1000Genomes	Global	Study-wide	5008	G=0.782	T=0.218
1000Genomes	South Asian	Sub	978	G=0.810	T=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.873	T=0.127
The Genome Aggregation Database	African	Sub	8700	G=0.856	T=0.144
The Genome Aggregation Database	American	Sub	834	G=0.780	T=0.220
The Genome Aggregation Database	East Asian	Sub	1606	G=0.606	T=0.394
The Genome Aggregation Database	Europe	Sub	18462	G=0.871	T=0.128
The Genome Aggregation Database	Global	Study-wide	29902	G=0.851	T=0.149
The Genome Aggregation Database	Other	Sub	300	G=0.940	T=0.060
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.856	T=0.143
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.869	T=0.131

PMID	Title	Author	Journal
23469231	Pathway analysis for genome-wide association study of lung cancer in Han Chinese population.	Zhang R	PLoS One
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet
20828390	Comparison of multimarker logistic regression models, with application to a genomewide scan of schizophrenia.	Wason JM	BMC Genet

P-Value

SNP ID	p-value	Traits	Study
rs178260	1.37E-05	alcohol and nictotine co-dependence	20158304

eQTL of rs178260 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 rs178260 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 )
chr22	21275428	21275520	E067	-48788
chr22	21275578	21275634	E067	-48674
chr22	21275812	21275893	E067	-48415
chr22	21275964	21276076	E067	-48232
chr22	21279924	21279974	E067	-44334
chr22	21280676	21280900	E067	-43408
chr22	21281005	21281068	E067	-43240
chr22	21281094	21281156	E067	-43152
chr22	21291427	21291487	E067	-32821
chr22	21291519	21292159	E067	-32149
chr22	21292213	21292258	E067	-32050
chr22	21292336	21292417	E067	-31891
chr22	21292550	21292860	E067	-31448
chr22	21293099	21293273	E067	-31035
chr22	21293371	21293421	E067	-30887
chr22	21293901	21294011	E067	-30297
chr22	21294388	21294824	E067	-29484
chr22	21294921	21295000	E067	-29308
chr22	21295022	21295062	E067	-29246
chr22	21295064	21295173	E067	-29135
chr22	21295203	21295653	E067	-28655
chr22	21299057	21299127	E067	-25181
chr22	21299664	21299714	E067	-24594
chr22	21299739	21299819	E067	-24489
chr22	21299940	21300028	E067	-24280
chr22	21300035	21300111	E067	-24197
chr22	21300152	21300219	E067	-24089
chr22	21300338	21300371	E067	-23937
chr22	21300444	21300674	E067	-23634
chr22	21300846	21300920	E067	-23388
chr22	21301010	21301064	E067	-23244
chr22	21301101	21301165	E067	-23143
chr22	21301175	21301353	E067	-22955
chr22	21334566	21335072	E067	10258
chr22	21335124	21335330	E067	10816
chr22	21338091	21338349	E067	13783
chr22	21353624	21353708	E067	29316
chr22	21353740	21353790	E067	29432
chr22	21353813	21354019	E067	29505
chr22	21354067	21354161	E067	29759
chr22	21354194	21354492	E067	29886
chr22	21354571	21354662	E067	30263
chr22	21357802	21357853	E067	33494
chr22	21358149	21358387	E067	33841
chr22	21367390	21367550	E067	43082
chr22	21367553	21367649	E067	43245
chr22	21367686	21367790	E067	43378
chr22	21275428	21275520	E068	-48788
chr22	21275578	21275634	E068	-48674
chr22	21275812	21275893	E068	-48415
chr22	21275964	21276076	E068	-48232
chr22	21279708	21279758	E068	-44550
chr22	21279924	21279974	E068	-44334
chr22	21280034	21280084	E068	-44224
chr22	21280282	21280344	E068	-43964
chr22	21280348	21280436	E068	-43872
chr22	21280676	21280900	E068	-43408
chr22	21292213	21292258	E068	-32050
chr22	21292336	21292417	E068	-31891
chr22	21292550	21292860	E068	-31448
chr22	21294388	21294824	E068	-29484
chr22	21294921	21295000	E068	-29308
chr22	21295022	21295062	E068	-29246
chr22	21295064	21295173	E068	-29135
chr22	21295203	21295653	E068	-28655
chr22	21296200	21296272	E068	-28036
chr22	21296320	21296370	E068	-27938
chr22	21300152	21300219	E068	-24089
chr22	21300338	21300371	E068	-23937
chr22	21300444	21300674	E068	-23634
chr22	21300846	21300920	E068	-23388
chr22	21301010	21301064	E068	-23244
chr22	21301101	21301165	E068	-23143
chr22	21301175	21301353	E068	-22955
chr22	21321915	21322146	E068	-2162
chr22	21334566	21335072	E068	10258
chr22	21338420	21338474	E068	14112
chr22	21338521	21338561	E068	14213
chr22	21353813	21354019	E068	29505
chr22	21354067	21354161	E068	29759
chr22	21354194	21354492	E068	29886
chr22	21354571	21354662	E068	30263
chr22	21357802	21357853	E068	33494
chr22	21358149	21358387	E068	33841
chr22	21369713	21369898	E068	45405
chr22	21369904	21370043	E068	45596
chr22	21370123	21370344	E068	45815
chr22	21279924	21279974	E069	-44334
chr22	21280034	21280084	E069	-44224
chr22	21280282	21280344	E069	-43964
chr22	21280348	21280436	E069	-43872
chr22	21285645	21285700	E069	-38608
chr22	21291427	21291487	E069	-32821
chr22	21291519	21292159	E069	-32149
chr22	21292213	21292258	E069	-32050
chr22	21292336	21292417	E069	-31891
chr22	21293901	21294011	E069	-30297
chr22	21294388	21294824	E069	-29484
chr22	21294921	21295000	E069	-29308
chr22	21295022	21295062	E069	-29246
chr22	21295064	21295173	E069	-29135
chr22	21295203	21295653	E069	-28655
chr22	21297218	21297268	E069	-27040
chr22	21300444	21300674	E069	-23634
chr22	21300846	21300920	E069	-23388
chr22	21301010	21301064	E069	-23244
chr22	21301101	21301165	E069	-23143
chr22	21301175	21301353	E069	-22955
chr22	21302497	21302551	E069	-21757
chr22	21302563	21302643	E069	-21665
chr22	21302708	21302767	E069	-21541
chr22	21322211	21323014	E069	-1294
chr22	21323113	21323248	E069	-1060
chr22	21334566	21335072	E069	10258
chr22	21335124	21335330	E069	10816
chr22	21335359	21335702	E069	11051
chr22	21338091	21338349	E069	13783
chr22	21354571	21354662	E069	30263
chr22	21357802	21357853	E069	33494
chr22	21358149	21358387	E069	33841
chr22	21276636	21276779	E070	-47529
chr22	21280676	21280900	E070	-43408
chr22	21281005	21281068	E070	-43240
chr22	21281094	21281156	E070	-43152
chr22	21291427	21291487	E070	-32821
chr22	21291519	21292159	E070	-32149
chr22	21292213	21292258	E070	-32050
chr22	21321915	21322146	E070	-2162
chr22	21322211	21323014	E070	-1294
chr22	21323113	21323248	E070	-1060
chr22	21323278	21323537	E070	-771
chr22	21323601	21323713	E070	-595
chr22	21327411	21327542	E070	3103
chr22	21328608	21328712	E070	4300
chr22	21334566	21335072	E070	10258
chr22	21335124	21335330	E070	10816
chr22	21335359	21335702	E070	11051
chr22	21338091	21338349	E070	13783
chr22	21338420	21338474	E070	14112
chr22	21338521	21338561	E070	14213
chr22	21338615	21338740	E070	14307
chr22	21338995	21339080	E070	14687
chr22	21339136	21339176	E070	14828
chr22	21353813	21354019	E070	29505
chr22	21354067	21354161	E070	29759
chr22	21357802	21357853	E070	33494
chr22	21358149	21358387	E070	33841
chr22	21358441	21358575	E070	34133
chr22	21366400	21366470	E070	42092
chr22	21366536	21366587	E070	42228
chr22	21367390	21367550	E070	43082
chr22	21369713	21369898	E070	45405
chr22	21369904	21370043	E070	45596
chr22	21275428	21275520	E071	-48788
chr22	21275578	21275634	E071	-48674
chr22	21275812	21275893	E071	-48415
chr22	21275964	21276076	E071	-48232
chr22	21280034	21280084	E071	-44224
chr22	21280282	21280344	E071	-43964
chr22	21280348	21280436	E071	-43872
chr22	21280676	21280900	E071	-43408
chr22	21286733	21286863	E071	-37445
chr22	21291427	21291487	E071	-32821
chr22	21291519	21292159	E071	-32149
chr22	21292213	21292258	E071	-32050
chr22	21293901	21294011	E071	-30297
chr22	21294388	21294824	E071	-29484
chr22	21294921	21295000	E071	-29308
chr22	21295022	21295062	E071	-29246
chr22	21295064	21295173	E071	-29135
chr22	21295203	21295653	E071	-28655
chr22	21300152	21300219	E071	-24089
chr22	21300338	21300371	E071	-23937
chr22	21300444	21300674	E071	-23634
chr22	21300846	21300920	E071	-23388
chr22	21301010	21301064	E071	-23244
chr22	21301101	21301165	E071	-23143
chr22	21301175	21301353	E071	-22955
chr22	21302497	21302551	E071	-21757
chr22	21302563	21302643	E071	-21665
chr22	21302708	21302767	E071	-21541
chr22	21307487	21307590	E071	-16718
chr22	21323113	21323248	E071	-1060
chr22	21323278	21323537	E071	-771
chr22	21334566	21335072	E071	10258
chr22	21335124	21335330	E071	10816
chr22	21338091	21338349	E071	13783
chr22	21354067	21354161	E071	29759
chr22	21354194	21354492	E071	29886
chr22	21357802	21357853	E071	33494
chr22	21358149	21358387	E071	33841
chr22	21367390	21367550	E071	43082
chr22	21367553	21367649	E071	43245
chr22	21367686	21367790	E071	43378
chr22	21276636	21276779	E072	-47529
chr22	21276999	21277071	E072	-47237
chr22	21280282	21280344	E072	-43964
chr22	21280348	21280436	E072	-43872
chr22	21280676	21280900	E072	-43408
chr22	21285372	21285422	E072	-38886
chr22	21285645	21285700	E072	-38608
chr22	21291519	21292159	E072	-32149
chr22	21294388	21294824	E072	-29484
chr22	21294921	21295000	E072	-29308
chr22	21295022	21295062	E072	-29246
chr22	21295064	21295173	E072	-29135
chr22	21295203	21295653	E072	-28655
chr22	21300152	21300219	E072	-24089
chr22	21300338	21300371	E072	-23937
chr22	21300444	21300674	E072	-23634
chr22	21300846	21300920	E072	-23388
chr22	21301010	21301064	E072	-23244
chr22	21301101	21301165	E072	-23143
chr22	21301175	21301353	E072	-22955
chr22	21322211	21323014	E072	-1294
chr22	21323113	21323248	E072	-1060
chr22	21328608	21328712	E072	4300
chr22	21335124	21335330	E072	10816
chr22	21338091	21338349	E072	13783
chr22	21353813	21354019	E072	29505
chr22	21354067	21354161	E072	29759
chr22	21354194	21354492	E072	29886
chr22	21357802	21357853	E072	33494
chr22	21358149	21358387	E072	33841
chr22	21367390	21367550	E072	43082
chr22	21275428	21275520	E073	-48788
chr22	21275578	21275634	E073	-48674
chr22	21276636	21276779	E073	-47529
chr22	21276999	21277071	E073	-47237
chr22	21280348	21280436	E073	-43872
chr22	21280676	21280900	E073	-43408
chr22	21281005	21281068	E073	-43240
chr22	21281094	21281156	E073	-43152
chr22	21291427	21291487	E073	-32821
chr22	21291519	21292159	E073	-32149
chr22	21293099	21293273	E073	-31035
chr22	21299739	21299819	E073	-24489
chr22	21299940	21300028	E073	-24280
chr22	21300035	21300111	E073	-24197
chr22	21300152	21300219	E073	-24089
chr22	21300338	21300371	E073	-23937
chr22	21300444	21300674	E073	-23634
chr22	21300846	21300920	E073	-23388
chr22	21301010	21301064	E073	-23244
chr22	21301101	21301165	E073	-23143
chr22	21301175	21301353	E073	-22955
chr22	21322211	21323014	E073	-1294
chr22	21323113	21323248	E073	-1060
chr22	21323278	21323537	E073	-771
chr22	21338091	21338349	E073	13783
chr22	21338420	21338474	E073	14112
chr22	21338521	21338561	E073	14213
chr22	21338615	21338740	E073	14307
chr22	21352352	21352455	E073	28044
chr22	21352530	21352644	E073	28222
chr22	21352697	21352910	E073	28389
chr22	21353624	21353708	E073	29316
chr22	21353740	21353790	E073	29432
chr22	21353813	21354019	E073	29505
chr22	21354067	21354161	E073	29759
chr22	21354194	21354492	E073	29886
chr22	21358441	21358575	E073	34133
chr22	21275428	21275520	E074	-48788
chr22	21275578	21275634	E074	-48674
chr22	21275812	21275893	E074	-48415
chr22	21275964	21276076	E074	-48232
chr22	21276636	21276779	E074	-47529
chr22	21276999	21277071	E074	-47237
chr22	21280282	21280344	E074	-43964
chr22	21280348	21280436	E074	-43872
chr22	21280676	21280900	E074	-43408
chr22	21281005	21281068	E074	-43240
chr22	21281094	21281156	E074	-43152
chr22	21291427	21291487	E074	-32821
chr22	21291519	21292159	E074	-32149
chr22	21294388	21294824	E074	-29484
chr22	21294921	21295000	E074	-29308
chr22	21299664	21299714	E074	-24594
chr22	21299739	21299819	E074	-24489
chr22	21299940	21300028	E074	-24280
chr22	21300035	21300111	E074	-24197
chr22	21300152	21300219	E074	-24089
chr22	21300338	21300371	E074	-23937
chr22	21300444	21300674	E074	-23634
chr22	21300846	21300920	E074	-23388
chr22	21301010	21301064	E074	-23244
chr22	21301101	21301165	E074	-23143
chr22	21301175	21301353	E074	-22955
chr22	21322211	21323014	E074	-1294
chr22	21334566	21335072	E074	10258
chr22	21335124	21335330	E074	10816
chr22	21335359	21335702	E074	11051
chr22	21338091	21338349	E074	13783
chr22	21354571	21354662	E074	30263
chr22	21369904	21370043	E074	45596
chr22	21275964	21276076	E081	-48232
chr22	21276636	21276779	E081	-47529
chr22	21291427	21291487	E081	-32821
chr22	21291519	21292159	E081	-32149
chr22	21292213	21292258	E081	-32050
chr22	21292336	21292417	E081	-31891
chr22	21292550	21292860	E081	-31448
chr22	21293099	21293273	E081	-31035
chr22	21293371	21293421	E081	-30887
chr22	21293901	21294011	E081	-30297
chr22	21294388	21294824	E081	-29484
chr22	21294921	21295000	E081	-29308
chr22	21295022	21295062	E081	-29246
chr22	21295064	21295173	E081	-29135
chr22	21295203	21295653	E081	-28655
chr22	21335124	21335330	E081	10816
chr22	21335359	21335702	E081	11051
chr22	21338091	21338349	E081	13783
chr22	21338420	21338474	E081	14112
chr22	21338521	21338561	E081	14213
chr22	21353624	21353708	E081	29316
chr22	21353740	21353790	E081	29432
chr22	21353813	21354019	E081	29505
chr22	21354067	21354161	E081	29759
chr22	21354194	21354492	E081	29886
chr22	21354571	21354662	E081	30263
chr22	21357802	21357853	E081	33494
chr22	21358149	21358387	E081	33841
chr22	21366400	21366470	E081	42092
chr22	21366536	21366587	E081	42228
chr22	21367390	21367550	E081	43082
chr22	21367553	21367649	E081	43245
chr22	21367686	21367790	E081	43378
chr22	21369713	21369898	E081	45405
chr22	21369904	21370043	E081	45596
chr22	21370123	21370344	E081	45815
chr22	21276636	21276779	E082	-47529
chr22	21276999	21277071	E082	-47237
chr22	21291427	21291487	E082	-32821
chr22	21291519	21292159	E082	-32149
chr22	21294388	21294824	E082	-29484
chr22	21294921	21295000	E082	-29308
chr22	21295022	21295062	E082	-29246
chr22	21295064	21295173	E082	-29135
chr22	21295203	21295653	E082	-28655
chr22	21323113	21323248	E082	-1060
chr22	21323278	21323537	E082	-771
chr22	21328608	21328712	E082	4300
chr22	21335359	21335702	E082	11051
chr22	21338091	21338349	E082	13783
chr22	21338420	21338474	E082	14112
chr22	21338521	21338561	E082	14213
chr22	21338615	21338740	E082	14307
chr22	21353813	21354019	E082	29505
chr22	21354067	21354161	E082	29759
chr22	21354194	21354492	E082	29886
chr22	21358149	21358387	E082	33841
chr22	21358441	21358575	E082	34133
chr22	21366400	21366470	E082	42092
chr22	21366536	21366587	E082	42228
chr22	21369713	21369898	E082	45405
chr22	21369904	21370043	E082	45596
chr22	21370123	21370344	E082	45815

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr22	21274379	21274581	E067	-49727
chr22	21310353	21312768	E067	-11540
chr22	21319050	21319188	E067	-5120
chr22	21319230	21319380	E067	-4928
chr22	21319433	21320045	E067	-4263
chr22	21335722	21337672	E067	11414
chr22	21354736	21357547	E067	30428
chr22	21274379	21274581	E068	-49727
chr22	21310353	21312768	E068	-11540
chr22	21319230	21319380	E068	-4928
chr22	21319433	21320045	E068	-4263
chr22	21335722	21337672	E068	11414
chr22	21354736	21357547	E068	30428
chr22	21274379	21274581	E069	-49727
chr22	21310353	21312768	E069	-11540
chr22	21335722	21337672	E069	11414
chr22	21354736	21357547	E069	30428
chr22	21274379	21274581	E070	-49727
chr22	21319050	21319188	E070	-5120
chr22	21319230	21319380	E070	-4928
chr22	21335722	21337672	E070	11414
chr22	21354736	21357547	E070	30428
chr22	21274379	21274581	E071	-49727
chr22	21319433	21320045	E071	-4263
chr22	21335722	21337672	E071	11414
chr22	21354736	21357547	E071	30428
chr22	21274379	21274581	E072	-49727
chr22	21310353	21312768	E072	-11540
chr22	21319433	21320045	E072	-4263
chr22	21335722	21337672	E072	11414
chr22	21354736	21357547	E072	30428
chr22	21274379	21274581	E073	-49727
chr22	21310353	21312768	E073	-11540
chr22	21319050	21319188	E073	-5120
chr22	21319230	21319380	E073	-4928
chr22	21319433	21320045	E073	-4263
chr22	21335722	21337672	E073	11414
chr22	21354736	21357547	E073	30428
chr22	21274379	21274581	E074	-49727
chr22	21310353	21312768	E074	-11540
chr22	21335722	21337672	E074	11414
chr22	21354736	21357547	E074	30428
chr22	21274379	21274581	E081	-49727
chr22	21335722	21337672	E081	11414
chr22	21354736	21357547	E081	30428
chr22	21274379	21274581	E082	-49727
chr22	21319050	21319188	E082	-5120
chr22	21319230	21319380	E082	-4928
chr22	21319433	21320045	E082	-4263
chr22	21335722	21337672	E082	11414
chr22	21354736	21357547	E082	30428