rs2980700

Homo sapiens
G>A
AGPAT5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0019 (577/29990,GnomAD)
A=0027 (810/29118,TOPMED)
A=0028 (139/5008,1000G)
chr8:6755315 (GRCh38.p7) (8p23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
171 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.6755315G>A
GRCh37.p13 chr 8NC_000008.10:g.6612836G>A

Gene: AGPAT5, 1-acylglycerol-3-phosphate O-acyltransferase 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AGPAT5 transcriptNM_018361.3:c.N/AIntron Variant
AGPAT5 transcript variant X1XM_011534751.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.897A=0.103
1000GenomesAmericanSub694G=1.000A=0.000
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.999A=0.001
1000GenomesGlobalStudy-wide5008G=0.972A=0.028
1000GenomesSouth AsianSub978G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8728G=0.935A=0.065
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1620G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18502G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29990G=0.980A=0.019
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.972A=0.027
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs29807000.00073alcohol dependence21314694

eQTL of rs2980700 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 rs2980700 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 )
chr865642456564472E067-48364
chr865645026564793E067-48043
chr865911596591295E067-21541
chr866021546602208E067-10628
chr866023376602502E067-10334
chr866025816602631E067-10205
chr866307976631081E06717961
chr866311196631474E06718283
chr866320616632111E06719225
chr866321546632194E06719318
chr866321956632300E06719359
chr866325886632650E06719752
chr866326786632807E06719842
chr865642456564472E068-48364
chr865645026564793E068-48043
chr865711086571278E068-41558
chr865713346571796E068-41040
chr865900786590258E068-22578
chr865902836590344E068-22492
chr865903556590577E068-22259
chr865906936591135E068-21701
chr865911596591295E068-21541
chr865939536594929E068-17907
chr866018176601934E068-10902
chr866032616603388E068-9448
chr866332216633413E06820385
chr866334806633811E06820644
chr866338776633957E06821041
chr866451976645852E06832361
chr866579706659071E06845134
chr865642456564472E069-48364
chr865645026564793E069-48043
chr865754266576318E069-36518
chr865900786590258E069-22578
chr865902836590344E069-22492
chr865903556590577E069-22259
chr865906936591135E069-21701
chr865911596591295E069-21541
chr866021546602208E069-10628
chr866023376602502E069-10334
chr866325886632650E06919752
chr866326786632807E06919842
chr866330056633106E06920169
chr866332216633413E06920385
chr866334806633811E06920644
chr866451976645852E06932361
chr866459586646009E06933122
chr866510876651154E06938251
chr865641776564240E070-48596
chr865642456564472E070-48364
chr865645026564793E070-48043
chr865903556590577E070-22259
chr865906936591135E070-21701
chr866073716607949E070-4887
chr866451976645852E07032361
chr866500716650131E07037235
chr866501336650183E07037297
chr866504016650495E07037565
chr866505116650847E07037675
chr865836616583711E071-29125
chr865839706584045E071-28791
chr865841936584377E071-28459
chr865892916589699E071-23137
chr865898036589925E071-22911
chr865906936591135E071-21701
chr865911596591295E071-21541
chr866018176601934E071-10902
chr866021546602208E071-10628
chr866023376602502E071-10334
chr866032616603388E071-9448
chr866311196631474E07118283
chr866314766631855E07118640
chr866318566632013E07119020
chr866320616632111E07119225
chr866321546632194E07119318
chr866321956632300E07119359
chr866330056633106E07120169
chr866332216633413E07120385
chr866334806633811E07120644
chr866367466637848E07123910
chr866451976645852E07132361
chr866516436651683E07138807
chr866517336651787E07138897
chr866520616652245E07139225
chr865638916564087E072-48749
chr865641776564240E072-48596
chr865642456564472E072-48364
chr865645026564793E072-48043
chr865867106587283E072-25553
chr865873576587558E072-25278
chr865903556590577E072-22259
chr866073716607949E072-4887
chr866210056621302E0728169
chr866314766631855E07218640
chr866330056633106E07220169
chr866332216633413E07220385
chr866334806633811E07220644
chr866451976645852E07232361
chr866579706659071E07245134
chr865638916564087E073-48749
chr865641776564240E073-48596
chr865642456564472E073-48364
chr865645026564793E073-48043
chr865906936591135E073-21701
chr865911596591295E073-21541
chr866018176601934E073-10902
chr866021546602208E073-10628
chr866023376602502E073-10334
chr866073716607949E073-4887
chr866318566632013E07319020
chr866320616632111E07319225
chr866321546632194E07319318
chr866321956632300E07319359
chr866451976645852E07332361
chr866510876651154E07338251
chr866516436651683E07338807
chr866517336651787E07338897
chr866520616652245E07339225
chr866523736652474E07339537
chr865642456564472E074-48364
chr865645026564793E074-48043
chr865892916589699E074-23137
chr865898036589925E074-22911
chr865900786590258E074-22578
chr865902836590344E074-22492
chr865903556590577E074-22259
chr865906936591135E074-21701
chr865911596591295E074-21541
chr865939536594929E074-17907
chr866006406600712E074-12124
chr866007356600819E074-12017
chr866008276600923E074-11913
chr866018176601934E074-10902
chr866021546602208E074-10628
chr866032616603388E074-9448
chr866045036604570E074-8266
chr866046396604689E074-8147
chr866047666604926E074-7910
chr866314766631855E07418640
chr866318566632013E07419020
chr866320616632111E07419225
chr866321546632194E07419318
chr866321956632300E07419359
chr866325886632650E07419752
chr866326786632807E07419842
chr866332216633413E07420385
chr866334806633811E07420644
chr866338776633957E07421041
chr865641776564240E081-48596
chr865642456564472E081-48364
chr865645026564793E081-48043
chr866442316644328E08131395
chr866443846644424E08131548
chr866444966644563E08131660
chr866449356644985E08132099
chr866451976645852E08132361
chr866459586646009E08133122
chr866504016650495E08137565
chr866505116650847E08137675
chr866579706659071E08145134
chr865641776564240E082-48596
chr865642456564472E082-48364
chr865645026564793E082-48043
chr865906936591135E082-21701
chr866318566632013E08219020
chr866320616632111E08219225
chr866321546632194E08219318
chr866321956632300E08219359
chr866442316644328E08231395
chr866443846644424E08231548
chr866444966644563E08231660










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr865649496567149E067-45687
chr865671506567229E067-45607
chr865649496567149E068-45687
chr865671506567229E068-45607
chr865649496567149E069-45687
chr865671506567229E069-45607
chr865649496567149E070-45687
chr865671506567229E070-45607
chr865649496567149E071-45687
chr865671506567229E071-45607
chr865649496567149E072-45687
chr865671506567229E072-45607
chr865649496567149E073-45687
chr865671506567229E073-45607
chr865649496567149E074-45687
chr865649496567149E081-45687
chr865671506567229E081-45607
chr865649496567149E082-45687
chr865671506567229E082-45607