rs4273649

Homo sapiens
A>C / A>G / A>T
GRIA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0404 (12113/29914,GnomAD)
A==0392 (11435/29118,TOPMED)
A==0456 (1757/3854,ALSPAC)
A==0463 (1718/3708,TWINSUK)
chr5:153740488 (GRCh38.p7) (5q33.2)
AD
GWASdb2
1   publication(s)
See rs on genome
327 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.153740488A>C
GRCh38.p7 chr 5NC_000005.10:g.153740488A>G
GRCh38.p7 chr 5NC_000005.10:g.153740488A>T
GRCh37.p13 chr 5NC_000005.9:g.153120048A>C
GRCh37.p13 chr 5NC_000005.9:g.153120048A>G
GRCh37.p13 chr 5NC_000005.9:g.153120048A>T

Gene: GRIA1, glutamate ionotropic receptor AMPA type subunit 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GRIA1 transcript variant 1NM_000827.3:c.N/AIntron Variant
GRIA1 transcript variant 2NM_001114183.1:c.N/AIntron Variant
GRIA1 transcript variant 3NM_001258019.1:c.N/AIntron Variant
GRIA1 transcript variant 4NM_001258020.1:c.N/AIntron Variant
GRIA1 transcript variant 5NM_001258021.1:c.N/AIntron Variant
GRIA1 transcript variant 6NM_001258022.1:c.N/AIntron Variant
GRIA1 transcript variant 7NM_001258023.1:c.N/AIntron Variant
GRIA1 transcript variant 8NR_047578.1:n.N/AIntron Variant
GRIA1 transcript variant X1XM_011537635.2:c.N/AIntron Variant
GRIA1 transcript variant X1XM_017009392.1:c.N/AIntron Variant
GRIA1 transcript variant X2XM_017009393.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.456G=0.544
The Genome Aggregation DatabaseAfricanSub8702A=0.332G=0.668
The Genome Aggregation DatabaseAmericanSub836A=0.290G=0.710
The Genome Aggregation DatabaseEast AsianSub1614A=0.057G=0.943
The Genome Aggregation DatabaseEuropeSub18460A=0.474G=0.525
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.404G=0.595
The Genome Aggregation DatabaseOtherSub302A=0.450G=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.392G=0.607
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.463G=0.537
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs42736498.5E-05alcoholism (heaviness of drinking)21529783

eQTL of rs4273649 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 rs4273649 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 )
chr5115694023115694133E067-33815
chr5115694193115694285E067-33663
chr5115694412115695401E067-32547
chr5115695428115695631E067-32317
chr5115695812115696112E067-31836
chr5115696226115696457E067-31491
chr5115707050115707220E067-20728
chr5115707310115707396E067-20552
chr5115707737115707845E067-20103
chr5115712311115712405E067-15543
chr5115713169115713352E067-14596
chr5115713427115713589E067-14359
chr5115713839115714593E067-13355
chr5115717085115717166E067-10782
chr5115717182115717256E067-10692
chr5115718401115718484E067-9464
chr5115718653115718697E067-9251
chr5115730928115731011E0672980
chr5115731030115731153E0673082
chr5115731213115731361E0673265
chr5115731375115731779E0673427
chr5115731821115732084E0673873
chr5115732269115732376E0674321
chr5115737369115737461E0679421
chr5115738038115738088E06710090
chr5115739814115739956E06711866
chr5115740646115740714E06712698
chr5115746783115747162E06718835
chr5115747186115747328E06719238
chr5115764617115764738E06736669
chr5115764778115764851E06736830
chr5115767143115767194E06739195
chr5115767208115767440E06739260
chr5115767587115767631E06739639
chr5115767741115767823E06739793
chr5115767931115767975E06739983
chr5115768022115768072E06740074
chr5115772535115772812E06744587
chr5115773165115773308E06745217
chr5115773970115774186E06746022
chr5115774254115774377E06746306
chr5115774447115774529E06746499
chr5115774779115774894E06746831
chr5115774957115775086E06747009
chr5115775512115775639E06747564
chr5115775994115776771E06748046
chr5115776785115776928E06748837
chr5115776932115776982E06748984
chr5115776995115777395E06749047
chr5115694412115695401E068-32547
chr5115695428115695631E068-32317
chr5115695812115696112E068-31836
chr5115706057115706101E068-21847
chr5115707737115707845E068-20103
chr5115708450115708513E068-19435
chr5115711706115711919E068-16029
chr5115711986115712146E068-15802
chr5115712311115712405E068-15543
chr5115713169115713352E068-14596
chr5115713427115713589E068-14359
chr5115713839115714593E068-13355
chr5115714616115714662E068-13286
chr5115716452115716554E068-11394
chr5115718401115718484E068-9464
chr5115718653115718697E068-9251
chr5115730928115731011E0682980
chr5115731030115731153E0683082
chr5115731213115731361E0683265
chr5115731375115731779E0683427
chr5115738038115738088E06810090
chr5115739814115739956E06811866
chr5115740646115740714E06812698
chr5115746183115746300E06818235
chr5115746413115746514E06818465
chr5115746783115747162E06818835
chr5115747186115747328E06819238
chr5115773165115773308E06845217
chr5115773970115774186E06846022
chr5115774254115774377E06846306
chr5115774447115774529E06846499
chr5115774779115774894E06846831
chr5115774957115775086E06847009
chr5115775512115775639E06847564
chr5115775994115776771E06848046
chr5115776785115776928E06848837
chr5115776932115776982E06848984
chr5115776995115777395E06849047
chr5115679696115680035E069-47913
chr5115694412115695401E069-32547
chr5115695428115695631E069-32317
chr5115695812115696112E069-31836
chr5115713169115713352E069-14596
chr5115713427115713589E069-14359
chr5115713839115714593E069-13355
chr5115717182115717256E069-10692
chr5115718401115718484E069-9464
chr5115718653115718697E069-9251
chr5115730928115731011E0692980
chr5115731030115731153E0693082
chr5115731213115731361E0693265
chr5115731375115731779E0693427
chr5115731821115732084E0693873
chr5115732269115732376E0694321
chr5115732421115732485E0694473
chr5115732512115732664E0694564
chr5115737369115737461E0699421
chr5115738038115738088E06910090
chr5115739814115739956E06911866
chr5115746783115747162E06918835
chr5115747186115747328E06919238
chr5115747451115747501E06919503
chr5115764351115764411E06936403
chr5115764617115764738E06936669
chr5115764778115764851E06936830
chr5115772535115772812E06944587
chr5115773165115773308E06945217
chr5115773970115774186E06946022
chr5115774254115774377E06946306
chr5115774447115774529E06946499
chr5115774779115774894E06946831
chr5115774957115775086E06947009
chr5115775512115775639E06947564
chr5115775994115776771E06948046
chr5115776785115776928E06948837
chr5115776932115776982E06948984
chr5115776995115777395E06949047
chr5115695428115695631E070-32317
chr5115695812115696112E070-31836
chr5115696226115696457E070-31491
chr5115696530115696915E070-31033
chr5115713839115714593E070-13355
chr5115739814115739956E07011866
chr5115775994115776771E07048046
chr5115776785115776928E07048837
chr5115776932115776982E07048984
chr5115776995115777395E07049047
chr5115694412115695401E071-32547
chr5115695428115695631E071-32317
chr5115695812115696112E071-31836
chr5115696226115696457E071-31491
chr5115696530115696915E071-31033
chr5115707050115707220E071-20728
chr5115713169115713352E071-14596
chr5115713427115713589E071-14359
chr5115713839115714593E071-13355
chr5115718401115718484E071-9464
chr5115718653115718697E071-9251
chr5115718851115718903E071-9045
chr5115730928115731011E0712980
chr5115731030115731153E0713082
chr5115731213115731361E0713265
chr5115731375115731779E0713427
chr5115731821115732084E0713873
chr5115732269115732376E0714321
chr5115732421115732485E0714473
chr5115732512115732664E0714564
chr5115738038115738088E07110090
chr5115739814115739956E07111866
chr5115740646115740714E07112698
chr5115746183115746300E07118235
chr5115746413115746514E07118465
chr5115746783115747162E07118835
chr5115747186115747328E07119238
chr5115764617115764738E07136669
chr5115764778115764851E07136830
chr5115767143115767194E07139195
chr5115767208115767440E07139260
chr5115767587115767631E07139639
chr5115767741115767823E07139793
chr5115772535115772812E07144587
chr5115773165115773308E07145217
chr5115773970115774186E07146022
chr5115774254115774377E07146306
chr5115774447115774529E07146499
chr5115774779115774894E07146831
chr5115774957115775086E07147009
chr5115775512115775639E07147564
chr5115775994115776771E07148046
chr5115776785115776928E07148837
chr5115776932115776982E07148984
chr5115776995115777395E07149047
chr5115679696115680035E072-47913
chr5115694023115694133E072-33815
chr5115694193115694285E072-33663
chr5115694412115695401E072-32547
chr5115695428115695631E072-32317
chr5115708450115708513E072-19435
chr5115711706115711919E072-16029
chr5115711986115712146E072-15802
chr5115712311115712405E072-15543
chr5115713169115713352E072-14596
chr5115713427115713589E072-14359
chr5115713839115714593E072-13355
chr5115714616115714662E072-13286
chr5115718653115718697E072-9251
chr5115718851115718903E072-9045
chr5115730928115731011E0722980
chr5115731030115731153E0723082
chr5115731213115731361E0723265
chr5115731375115731779E0723427
chr5115731821115732084E0723873
chr5115732269115732376E0724321
chr5115737369115737461E0729421
chr5115738038115738088E07210090
chr5115739814115739956E07211866
chr5115740646115740714E07212698
chr5115746413115746514E07218465
chr5115746783115747162E07218835
chr5115747186115747328E07219238
chr5115764351115764411E07236403
chr5115764617115764738E07236669
chr5115764778115764851E07236830
chr5115765949115766004E07238001
chr5115767143115767194E07239195
chr5115767208115767440E07239260
chr5115767587115767631E07239639
chr5115767741115767823E07239793
chr5115767931115767975E07239983
chr5115768022115768072E07240074
chr5115772535115772812E07244587
chr5115773165115773308E07245217
chr5115773970115774186E07246022
chr5115774254115774377E07246306
chr5115774447115774529E07246499
chr5115774779115774894E07246831
chr5115774957115775086E07247009
chr5115775512115775639E07247564
chr5115775994115776771E07248046
chr5115776785115776928E07248837
chr5115776932115776982E07248984
chr5115776995115777395E07249047
chr5115694193115694285E073-33663
chr5115694412115695401E073-32547
chr5115695428115695631E073-32317
chr5115695812115696112E073-31836
chr5115713169115713352E073-14596
chr5115713839115714593E073-13355
chr5115730928115731011E0732980
chr5115731030115731153E0733082
chr5115731213115731361E0733265
chr5115731375115731779E0733427
chr5115731821115732084E0733873
chr5115732269115732376E0734321
chr5115732421115732485E0734473
chr5115732512115732664E0734564
chr5115738038115738088E07310090
chr5115739814115739956E07311866
chr5115746413115746514E07318465
chr5115746783115747162E07318835
chr5115747186115747328E07319238
chr5115747451115747501E07319503
chr5115773165115773308E07345217
chr5115775994115776771E07348046
chr5115776785115776928E07348837
chr5115776932115776982E07348984
chr5115776995115777395E07349047
chr5115679696115680035E074-47913
chr5115695428115695631E074-32317
chr5115695812115696112E074-31836
chr5115696530115696915E074-31033
chr5115713169115713352E074-14596
chr5115713427115713589E074-14359
chr5115713839115714593E074-13355
chr5115718401115718484E074-9464
chr5115718653115718697E074-9251
chr5115730928115731011E0742980
chr5115731030115731153E0743082
chr5115731213115731361E0743265
chr5115731375115731779E0743427
chr5115731821115732084E0743873
chr5115732269115732376E0744321
chr5115732421115732485E0744473
chr5115732512115732664E0744564
chr5115737369115737461E0749421
chr5115738038115738088E07410090
chr5115739814115739956E07411866
chr5115740646115740714E07412698
chr5115746183115746300E07418235
chr5115746413115746514E07418465
chr5115746783115747162E07418835
chr5115747186115747328E07419238
chr5115764617115764738E07436669
chr5115764778115764851E07436830
chr5115772535115772812E07444587
chr5115773165115773308E07445217
chr5115773970115774186E07446022
chr5115774254115774377E07446306
chr5115774447115774529E07446499
chr5115774779115774894E07446831
chr5115774957115775086E07447009
chr5115775512115775639E07447564
chr5115775994115776771E07448046
chr5115776785115776928E07448837
chr5115776932115776982E07448984
chr5115776995115777395E07449047
chr5115695428115695631E081-32317
chr5115695812115696112E081-31836
chr5115696226115696457E081-31491
chr5115696530115696915E081-31033
chr5115713839115714593E081-13355
chr5115717085115717166E081-10782
chr5115717182115717256E081-10692
chr5115731213115731361E0813265
chr5115731375115731779E0813427
chr5115745685115745765E08117737
chr5115745783115745978E08117835
chr5115746183115746300E08118235
chr5115767143115767194E08139195
chr5115767208115767440E08139260
chr5115775994115776771E08148046
chr5115776785115776928E08148837
chr5115776932115776982E08148984
chr5115776995115777395E08149047
chr5115695428115695631E082-32317
chr5115695812115696112E082-31836
chr5115713839115714593E082-13355
chr5115714616115714662E082-13286
chr5115717085115717166E082-10782
chr5115717182115717256E082-10692
chr5115745685115745765E08217737
chr5115745783115745978E08217835
chr5115767143115767194E08239195
chr5115767208115767440E08239260
chr5115775994115776771E08248046
chr5115776785115776928E08248837
chr5115776932115776982E08248984
chr5115776995115777395E08249047










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5115696929115697858E067-30090
chr5115717710115718158E067-9790
chr5115696929115697858E068-30090
chr5115717710115718158E068-9790
chr5115696929115697858E069-30090
chr5115717710115718158E069-9790
chr5115696929115697858E070-30090
chr5115696929115697858E071-30090
chr5115717710115718158E071-9790
chr5115696929115697858E072-30090
chr5115717710115718158E072-9790
chr5115696929115697858E073-30090
chr5115717710115718158E073-9790
chr5115696929115697858E074-30090
chr5115696929115697858E082-30090