rs4276595

Homo sapiens
T>C
MGAM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0078 (2141/27384,GnomAD)
C=0078 (393/5008,1000G)
chr7:142065905 (GRCh38.p7) (7q34)
ND
GWASdb2
1   publication(s)
See rs on genome
348 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.142065905T>C
GRCh37.p13 chr 7 fix patch HG7_PATCHNW_003571040.1:g.207856T>C
MGAM RefSeqGeneNG_033954.1:g.75027T>C
GRCh38.p7 chr 7 alt locus HSCHR7_2_CTG6NT_187562.1:g.27785T>C
GRCh37.p13 chr 7NC_000007.13:g.141765705T>C

Gene: MGAM, maltase-glucoamylase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MGAM transcriptNM_004668.2:c.N/AIntron Variant
MGAM transcript variant X1XM_006716168.2:c.N/AIntron Variant
MGAM transcript variant X2XM_011516670.2:c.N/AIntron Variant
MGAM transcript variant X4XM_011516671.2:c.N/AIntron Variant
MGAM transcript variant X5XM_011516672.2:c.N/AIntron Variant
MGAM transcript variant X6XM_011516673.2:c.N/AIntron Variant
MGAM transcript variant X3XM_017012772.1:c.N/AIntron Variant
MGAM transcript variant X9XM_011516674.2:c.N/AGenic Downstream Transcript Variant
MGAM transcript variant X7XR_927545.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.773C=0.227
1000GenomesAmericanSub694T=0.960C=0.040
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.962C=0.038
1000GenomesGlobalStudy-wide5008T=0.922C=0.078
1000GenomesSouth AsianSub978T=0.970C=0.030
The Genome Aggregation DatabaseAfricanSub8504T=0.805C=0.195
The Genome Aggregation DatabaseAmericanSub774T=0.980C=0.020
The Genome Aggregation DatabaseEast AsianSub1512T=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub16308T=0.972C=0.027
The Genome Aggregation DatabaseGlobalStudy-wide27384T=0.921C=0.078
The Genome Aggregation DatabaseOtherSub286T=0.950C=0.050
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs42765951.58E-05alcohol and nictotine co-dependence20158304

eQTL of rs4276595 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 rs4276595 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 )
chr7195695195752E067-12104
chr7195786195928E067-11928
chr7196007196061E067-11795
chr7196170196241E067-11615
chr7196248196330E067-11526
chr7196401196506E067-11350
chr7214508214613E0676652
chr7214616214807E0676760
chr7219134219203E06711278
chr7219228219346E06711372
chr7219458219614E06711602
chr7219691220932E06711835
chr7222104222377E06714248
chr7222381222528E06714525
chr7222719222874E06714863
chr7222878223032E06715022
chr7223033223220E06715177
chr7228057228262E06720201
chr7228332228622E06720476
chr7228647228783E06720791
chr7228836228935E06720980
chr7229031229931E06721175
chr7229994230130E06722138
chr7230187230336E06722331
chr7230930231070E06723074
chr7231083231129E06723227
chr7231153231304E06723297
chr7231500231821E06723644
chr7231944232122E06724088
chr7232210232364E06724354
chr7232380232442E06724524
chr7191000191143E068-16713
chr7196622196692E068-11164
chr7196762196864E068-10992
chr7196909197060E068-10796
chr7197158197322E068-10534
chr7198052198245E068-9611
chr7198564198623E068-9233
chr7198842198896E068-8960
chr7198981199076E068-8780
chr7199146199216E068-8640
chr7199300199340E068-8516
chr7208169208329E068313
chr7208376208493E068520
chr7208666208716E068810
chr7208922209047E0681066
chr7209124209174E0681268
chr7214508214613E0686652
chr7214616214807E0686760
chr7218646218721E06810790
chr7218805218855E06810949
chr7218945218999E06811089
chr7219080219130E06811224
chr7219134219203E06811278
chr7219228219346E06811372
chr7219458219614E06811602
chr7219691220932E06811835
chr7222104222377E06814248
chr7222381222528E06814525
chr7222719222874E06814863
chr7222878223032E06815022
chr7226951227031E06819095
chr7228332228622E06820476
chr7228647228783E06820791
chr7228836228935E06820980
chr7229031229931E06821175
chr7229994230130E06822138
chr7230187230336E06822331
chr7230599230714E06822743
chr7230930231070E06823074
chr7231083231129E06823227
chr7231153231304E06823297
chr7231500231821E06823644
chr7231944232122E06824088
chr7232210232364E06824354
chr7232380232442E06824524
chr7191000191143E069-16713
chr7195695195752E069-12104
chr7195786195928E069-11928
chr7196007196061E069-11795
chr7196170196241E069-11615
chr7197158197322E069-10534
chr7197490197573E069-10283
chr7214508214613E0696652
chr7214616214807E0696760
chr7214820215218E0696964
chr7218231218345E06910375
chr7218397218506E06910541
chr7218507218557E06910651
chr7218646218721E06910790
chr7218805218855E06910949
chr7218945218999E06911089
chr7219080219130E06911224
chr7219134219203E06911278
chr7219228219346E06911372
chr7219458219614E06911602
chr7219691220932E06911835
chr7222104222377E06914248
chr7222381222528E06914525
chr7222719222874E06914863
chr7222878223032E06915022
chr7223033223220E06915177
chr7227626227861E06919770
chr7227868228005E06920012
chr7228057228262E06920201
chr7228332228622E06920476
chr7228647228783E06920791
chr7228836228935E06920980
chr7229031229931E06921175
chr7229994230130E06922138
chr7230187230336E06922331
chr7230930231070E06923074
chr7231083231129E06923227
chr7231153231304E06923297
chr7231500231821E06923644
chr7231944232122E06924088
chr7232210232364E06924354
chr7232380232442E06924524
chr7184224184304E070-23552
chr7184345184546E070-23310
chr7191000191143E070-16713
chr7196622196692E070-11164
chr7196762196864E070-10992
chr7196909197060E070-10796
chr7228057228262E07020201
chr7228332228622E07020476
chr7228647228783E07020791
chr7228836228935E07020980
chr7229031229931E07021175
chr7229994230130E07022138
chr7162159162862E071-44994
chr7162883163215E071-44641
chr7167781167949E071-39907
chr7168132168187E071-39669
chr7191000191143E071-16713
chr7195695195752E071-12104
chr7195786195928E071-11928
chr7196007196061E071-11795
chr7196170196241E071-11615
chr7196248196330E071-11526
chr7196401196506E071-11350
chr7196622196692E071-11164
chr7196762196864E071-10992
chr7196909197060E071-10796
chr7197158197322E071-10534
chr7214616214807E0716760
chr7214820215218E0716964
chr7216450217171E0718594
chr7217372217428E0719516
chr7217483217533E0719627
chr7217545217640E0719689
chr7217729217777E0719873
chr7217831217933E0719975
chr7217974218042E07110118
chr7218646218721E07110790
chr7218805218855E07110949
chr7218945218999E07111089
chr7219080219130E07111224
chr7219134219203E07111278
chr7219228219346E07111372
chr7219458219614E07111602
chr7219691220932E07111835
chr7222104222377E07114248
chr7222381222528E07114525
chr7222719222874E07114863
chr7227868228005E07120012
chr7228057228262E07120201
chr7228332228622E07120476
chr7228647228783E07120791
chr7228836228935E07120980
chr7229031229931E07121175
chr7229994230130E07122138
chr7230187230336E07122331
chr7230599230714E07122743
chr7230930231070E07123074
chr7231083231129E07123227
chr7231153231304E07123297
chr7231500231821E07123644
chr7231944232122E07124088
chr7162159162862E072-44994
chr7162883163215E072-44641
chr7191000191143E072-16713
chr7195786195928E072-11928
chr7196007196061E072-11795
chr7196170196241E072-11615
chr7196248196330E072-11526
chr7196401196506E072-11350
chr7199146199216E072-8640
chr7199300199340E072-8516
chr7199407199501E072-8355
chr7199534199748E072-8108
chr7208376208493E072520
chr7208666208716E072810
chr7208922209047E0721066
chr7209124209174E0721268
chr7214508214613E0726652
chr7214616214807E0726760
chr7214820215218E0726964
chr7216450217171E0728594
chr7218109218189E07210253
chr7218231218345E07210375
chr7218397218506E07210541
chr7218507218557E07210651
chr7218646218721E07210790
chr7218805218855E07210949
chr7218945218999E07211089
chr7219080219130E07211224
chr7219134219203E07211278
chr7219228219346E07211372
chr7219691220932E07211835
chr7222104222377E07214248
chr7222381222528E07214525
chr7222719222874E07214863
chr7222878223032E07215022
chr7223033223220E07215177
chr7223225223435E07215369
chr7223452223571E07215596
chr7228332228622E07220476
chr7228647228783E07220791
chr7228836228935E07220980
chr7229031229931E07221175
chr7229994230130E07222138
chr7230187230336E07222331
chr7230599230714E07222743
chr7230930231070E07223074
chr7231083231129E07223227
chr7231153231304E07223297
chr7231500231821E07223644
chr7231944232122E07224088
chr7232210232364E07224354
chr7232380232442E07224524
chr7162883163215E073-44641
chr7163579163742E073-44114
chr7163748163842E073-44014
chr7190847190921E073-16935
chr7191000191143E073-16713
chr7195695195752E073-12104
chr7195786195928E073-11928
chr7196007196061E073-11795
chr7196170196241E073-11615
chr7196248196330E073-11526
chr7196401196506E073-11350
chr7208169208329E073313
chr7208376208493E073520
chr7208666208716E073810
chr7208922209047E0731066
chr7209124209174E0731268
chr7209863210082E0732007
chr7210475210530E0732619
chr7214616214807E0736760
chr7214820215218E0736964
chr7217974218042E07310118
chr7218109218189E07310253
chr7218231218345E07310375
chr7218397218506E07310541
chr7219080219130E07311224
chr7219134219203E07311278
chr7219228219346E07311372
chr7219458219614E07311602
chr7219691220932E07311835
chr7222104222377E07314248
chr7222381222528E07314525
chr7222719222874E07314863
chr7222878223032E07315022
chr7223033223220E07315177
chr7223225223435E07315369
chr7223452223571E07315596
chr7227868228005E07320012
chr7228057228262E07320201
chr7228332228622E07320476
chr7228647228783E07320791
chr7228836228935E07320980
chr7229031229931E07321175
chr7229994230130E07322138
chr7230930231070E07323074
chr7231083231129E07323227
chr7231153231304E07323297
chr7231500231821E07323644
chr7231944232122E07324088
chr7232210232364E07324354
chr7232380232442E07324524
chr7195695195752E074-12104
chr7195786195928E074-11928
chr7218231218345E07410375
chr7218397218506E07410541
chr7218507218557E07410651
chr7218646218721E07410790
chr7218805218855E07410949
chr7218945218999E07411089
chr7219080219130E07411224
chr7219134219203E07411278
chr7219228219346E07411372
chr7219458219614E07411602
chr7219691220932E07411835
chr7222104222377E07414248
chr7222381222528E07414525
chr7228332228622E07420476
chr7228647228783E07420791
chr7228836228935E07420980
chr7229031229931E07421175
chr7229994230130E07422138
chr7231500231821E07423644
chr7231944232122E07424088
chr7232210232364E07424354
chr7232380232442E07424524
chr7161815162008E081-45848
chr7162159162862E081-44994
chr7162883163215E081-44641
chr7190280190558E081-17298
chr7190847190921E081-16935
chr7191000191143E081-16713
chr7195695195752E081-12104
chr7195786195928E081-11928
chr7196007196061E081-11795
chr7196170196241E081-11615
chr7196248196330E081-11526
chr7219691220932E08111835
chr7222104222377E08114248
chr7222381222528E08114525
chr7222719222874E08114863
chr7222878223032E08115022
chr7223033223220E08115177
chr7228332228622E08120476
chr7228647228783E08120791
chr7228836228935E08120980
chr7229031229931E08121175
chr7231153231304E08123297
chr7231500231821E08123644
chr7231944232122E08124088
chr7232210232364E08124354
chr7232380232442E08124524
chr7162159162862E082-44994
chr7162883163215E082-44641
chr7163317163483E082-44373
chr7163579163742E082-44114
chr7191000191143E082-16713
chr7196007196061E082-11795
chr7196170196241E082-11615
chr7196248196330E082-11526
chr7196401196506E082-11350
chr7196622196692E082-11164
chr7196762196864E082-10992
chr7199534199748E082-8108
chr7222719222874E08214863
chr7222878223032E08215022
chr7223033223220E08215177
chr7231500231821E08223644
chr7231944232122E08224088










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7191198193609E067-14247
chr7191198193609E068-14247
chr7191198193609E069-14247
chr7191198193609E070-14247
chr7191198193609E071-14247
chr7191198193609E072-14247
chr7191198193609E073-14247
chr7191198193609E074-14247
chr7191198193609E082-14247