rs7561821

Homo sapiens
T>G
RASGRP3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0436 (13063/29924,GnomAD)
G=0474 (13818/29116,TOPMED)
G=0465 (2328/5008,1000G)
G=0362 (1394/3854,ALSPAC)
G=0353 (1308/3708,TWINSUK)
chr2:33490675 (GRCh38.p7) (2p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
206 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.33490675T>G
GRCh37.p13 chr 2NC_000002.11:g.33715742T>G

Gene: RASGRP3, RAS guanyl releasing protein 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RASGRP3 transcript variant 1NM_001139488.1:c.N/AIntron Variant
RASGRP3 transcript variant 2NM_170672.2:c.N/AIntron Variant
RASGRP3 transcript variant 3NM_015376.2:c.N/AGenic Upstream Transcript Variant
RASGRP3 transcript variant X7XM_005264246.3:c.N/AIntron Variant
RASGRP3 transcript variant X5XM_011532746.2:c.N/AIntron Variant
RASGRP3 transcript variant X6XM_011532747.2:c.N/AIntron Variant
RASGRP3 transcript variant X2XM_011532748.2:c.N/AIntron Variant
RASGRP3 transcript variant X1XM_017003759.1:c.N/AIntron Variant
RASGRP3 transcript variant X3XM_017003760.1:c.N/AIntron Variant
RASGRP3 transcript variant X8XM_017003762.1:c.N/AIntron Variant
RASGRP3 transcript variant X9XM_017003763.1:c.N/AIntron Variant
RASGRP3 transcript variant X4XM_017003761.1:c.N/AGenic Upstream Transcript Variant
RASGRP3 transcript variant X10XR_001738691.1:n.N/AIntron Variant
RASGRP3 transcript variant X11XR_001738692.1:n.N/AIntron Variant
RASGRP3 transcript variant X12XR_001738693.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.411G=0.589
1000GenomesAmericanSub694T=0.500G=0.500
1000GenomesEast AsianSub1008T=0.607G=0.393
1000GenomesEuropeSub1006T=0.617G=0.383
1000GenomesGlobalStudy-wide5008T=0.535G=0.465
1000GenomesSouth AsianSub978T=0.570G=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.638G=0.362
The Genome Aggregation DatabaseAfricanSub8708T=0.402G=0.598
The Genome Aggregation DatabaseAmericanSub836T=0.550G=0.450
The Genome Aggregation DatabaseEast AsianSub1612T=0.576G=0.424
The Genome Aggregation DatabaseEuropeSub18466T=0.636G=0.363
The Genome Aggregation DatabaseGlobalStudy-wide29924T=0.563G=0.436
The Genome Aggregation DatabaseOtherSub302T=0.720G=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.525G=0.474
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.647G=0.353
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs75618210.000188alcohol consumption (maxi-drinks)24277619

eQTL of rs7561821 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 rs7561821 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 )
chr23366757733667872E067-47870
chr23366793933668167E067-47575
chr23366830333668396E067-47346
chr23366848633668616E067-47126
chr23370028133700471E067-15271
chr23370414933704347E067-11395
chr23370452533704964E067-10778
chr23370498433705098E067-10644
chr23370544533705593E067-10149
chr23370598833706038E067-9704
chr23370613933706198E067-9544
chr23372326933723734E0677527
chr23372373633723982E0677994
chr23372946833729656E06713726
chr23372968533729799E06713943
chr23372989633729997E06714154
chr23373622633736573E06720484
chr23374205933742406E06726317
chr23374653333746621E06730791
chr23374675833747494E06731016
chr23374760433747644E06731862
chr23374774433747905E06732002
chr23374790933748033E06732167
chr23366793933668167E068-47575
chr23366830333668396E068-47346
chr23366848633668616E068-47126
chr23370028133700471E068-15271
chr23370331433703552E068-12190
chr23370381133703931E068-11811
chr23370397733704070E068-11672
chr23370414933704347E068-11395
chr23370452533704964E068-10778
chr23370498433705098E068-10644
chr23370544533705593E068-10149
chr23370598833706038E068-9704
chr23370613933706198E068-9544
chr23370774633707844E068-7898
chr23371420633714291E068-1451
chr23371903033719458E0683288
chr23371948833719696E0683746
chr23371981133719871E0684069
chr23372001733720207E0684275
chr23372046233720527E0684720
chr23372064533720695E0684903
chr23372326933723734E0687527
chr23372373633723982E0687994
chr23372946833729656E06813726
chr23372968533729799E06813943
chr23372989633729997E06814154
chr23373081933730921E06815077
chr23373099333731564E06815251
chr23373574733736083E06820005
chr23374675833747494E06831016
chr23374760433747644E06831862
chr23374774433747905E06832002
chr23366757733667872E069-47870
chr23366793933668167E069-47575
chr23366830333668396E069-47346
chr23370028133700471E069-15271
chr23370381133703931E069-11811
chr23370397733704070E069-11672
chr23370414933704347E069-11395
chr23370452533704964E069-10778
chr23370498433705098E069-10644
chr23370544533705593E069-10149
chr23370598833706038E069-9704
chr23370613933706198E069-9544
chr23370774633707844E069-7898
chr23372001733720207E0694275
chr23372326933723734E0697527
chr23372373633723982E0697994
chr23372668333726735E06910941
chr23372688933726939E06911147
chr23372946833729656E06913726
chr23372968533729799E06913943
chr23372989633729997E06914154
chr23373081933730921E06915077
chr23373099333731564E06915251
chr23373456933734682E06918827
chr23373538033735520E06919638
chr23373574733736083E06920005
chr23374675833747494E06931016
chr23374760433747644E06931862
chr23374774433747905E06932002
chr23374790933748033E06932167
chr23376060733760765E06944865
chr23366757733667872E071-47870
chr23366793933668167E071-47575
chr23366830333668396E071-47346
chr23366848633668616E071-47126
chr23370028133700471E071-15271
chr23370544533705593E071-10149
chr23370598833706038E071-9704
chr23370613933706198E071-9544
chr23370774633707844E071-7898
chr23371379633713854E071-1888
chr23371420633714291E071-1451
chr23371438433714460E071-1282
chr23371453133714615E071-1127
chr23371560333715717E071-25
chr23371580733715874E07165
chr23371662633716878E071884
chr23371692033717011E0711178
chr23371759133717745E0711849
chr23371903033719458E0713288
chr23371948833719696E0713746
chr23371981133719871E0714069
chr23372001733720207E0714275
chr23372046233720527E0714720
chr23372064533720695E0714903
chr23372121633721533E0715474
chr23372196533722779E0716223
chr23372326933723734E0717527
chr23372373633723982E0717994
chr23372459733724656E0718855
chr23372502133725107E0719279
chr23372517633725317E0719434
chr23372797133728021E07112229
chr23372825333728346E07112511
chr23372946833729656E07113726
chr23372968533729799E07113943
chr23372989633729997E07114154
chr23373081933730921E07115077
chr23373099333731564E07115251
chr23373538033735520E07119638
chr23373574733736083E07120005
chr23373622633736573E07120484
chr23374653333746621E07130791
chr23374675833747494E07131016
chr23374760433747644E07131862
chr23374774433747905E07132002
chr23374790933748033E07132167
chr23376060733760765E07144865
chr23370414933704347E072-11395
chr23370452533704964E072-10778
chr23370498433705098E072-10644
chr23370544533705593E072-10149
chr23370774633707844E072-7898
chr23372946833729656E07213726
chr23372968533729799E07213943
chr23372989633729997E07214154
chr23373456933734682E07218827
chr23373538033735520E07219638
chr23373574733736083E07220005
chr23373622633736573E07220484
chr23374653333746621E07230791
chr23374675833747494E07231016
chr23374760433747644E07231862
chr23374774433747905E07232002
chr23374790933748033E07232167
chr23375464633755421E07238904
chr23374760433747644E07331862
chr23374774433747905E07332002
chr23374790933748033E07332167
chr23366725233667312E074-48430
chr23366757733667872E074-47870
chr23366793933668167E074-47575
chr23366830333668396E074-47346
chr23366848633668616E074-47126
chr23370028133700471E074-15271
chr23370381133703931E074-11811
chr23370397733704070E074-11672
chr23370414933704347E074-11395
chr23370598833706038E074-9704
chr23370613933706198E074-9544
chr23370650033706550E074-9192
chr23370774633707844E074-7898
chr23371379633713854E074-1888
chr23371438433714460E074-1282
chr23372001733720207E0744275
chr23372046233720527E0744720
chr23372064533720695E0744903
chr23372121633721533E0745474
chr23372196533722779E0746223
chr23372326933723734E0747527
chr23372373633723982E0747994
chr23372502133725107E0749279
chr23372517633725317E0749434
chr23372797133728021E07412229
chr23372825333728346E07412511
chr23372946833729656E07413726
chr23372968533729799E07413943
chr23372989633729997E07414154
chr23373081933730921E07415077
chr23373099333731564E07415251
chr23373456933734682E07418827
chr23373538033735520E07419638
chr23373574733736083E07420005
chr23373622633736573E07420484
chr23373734133737484E07421599
chr23373879033738966E07423048
chr23374159433741974E07425852
chr23374653333746621E07430791
chr23374675833747494E07431016
chr23374760433747644E07431862
chr23374774433747905E07432002
chr23374790933748033E07432167
chr23375628033756710E07440538
chr23375686233757074E07441120
chr23376060733760765E07444865
chr23374760433747644E08131862
chr23374774433747905E08132002
chr23374790933748033E08132167
chr23374760433747644E08231862
chr23374774433747905E08232002
chr23374790933748033E08232167









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr23370048433702256E067-13486
chr23370229833702340E067-13402
chr23370048433702256E068-13486
chr23370229833702340E068-13402
chr23370048433702256E069-13486
chr23370229833702340E069-13402
chr23370048433702256E070-13486
chr23370048433702256E071-13486
chr23370229833702340E071-13402
chr23370048433702256E072-13486
chr23370229833702340E072-13402
chr23370048433702256E073-13486
chr23370229833702340E073-13402
chr23370048433702256E074-13486
chr23370229833702340E074-13402
chr23370048433702256E081-13486