rs6947481

Homo sapiens
T>G
MGAM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0213 (6407/29950,GnomAD)
G=0259 (7551/29118,TOPMED)
G=0285 (1425/5008,1000G)
G=0133 (514/3854,ALSPAC)
G=0139 (516/3708,TWINSUK)
chr7:141993008 (GRCh38.p7) (7q34)
ND
GWASdb2
1   publication(s)
See rs on genome
234 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.141993008T>G
GRCh37.p13 chr 7 fix patch HG7_PATCHNW_003571040.1:g.134959T>G
MGAM RefSeqGeneNG_033954.1:g.2130T>G
GRCh37.p13 chr 7NC_000007.13:g.141692808T>G

Gene: MGAM, maltase-glucoamylase(plus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.571G=0.429
1000GenomesAmericanSub694T=0.750G=0.250
1000GenomesEast AsianSub1008T=0.692G=0.308
1000GenomesEuropeSub1006T=0.857G=0.143
1000GenomesGlobalStudy-wide5008T=0.715G=0.285
1000GenomesSouth AsianSub978T=0.770G=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.867G=0.133
The Genome Aggregation DatabaseAfricanSub8704T=0.618G=0.382
The Genome Aggregation DatabaseAmericanSub838T=0.800G=0.200
The Genome Aggregation DatabaseEast AsianSub1616T=0.681G=0.319
The Genome Aggregation DatabaseEuropeSub18490T=0.871G=0.128
The Genome Aggregation DatabaseGlobalStudy-wide29950T=0.786G=0.213
The Genome Aggregation DatabaseOtherSub302T=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.740G=0.259
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.861G=0.139
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
rs69474811.88E-05alcohol and nictotine co-dependence20158304

eQTL of rs6947481 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 rs6947481 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 )
chr78661686716E067-48243
chr78676686938E067-48021
chr78707187521E067-47438
chr78765087731E067-47228
chr78777887818E067-47141
chr7129546130463E067-4496
chr7130499130570E067-4389
chr7130949130999E067-3960
chr7131010131097E067-3862
chr7131129131199E067-3760
chr7131274131374E067-3585
chr7131378132209E067-2750
chr7132245132312E067-2647
chr7132501132551E067-2408
chr7153575153688E06718616
chr7153812154175E06718853
chr7154516154819E06719557
chr7155307155932E06720348
chr78661686716E068-48243
chr78676686938E068-48021
chr78707187521E068-47438
chr79314393549E068-41410
chr7116685116789E068-18170
chr7118480118938E068-16021
chr7119015119223E068-15736
chr7119356120217E068-14742
chr7129404129500E068-5459
chr7129546130463E068-4496
chr7130499130570E068-4389
chr7130949130999E068-3960
chr7131010131097E068-3862
chr7131129131199E068-3760
chr7131274131374E068-3585
chr7131378132209E068-2750
chr7132245132312E068-2647
chr7132501132551E068-2408
chr7153575153688E06818616
chr7153812154175E06818853
chr7154516154819E06819557
chr7155307155932E06820348
chr78537885484E069-49475
chr78549385634E069-49325
chr78564085878E069-49081
chr78598686036E069-48923
chr78631786480E069-48479
chr78654886600E069-48359
chr78661686716E069-48243
chr78676686938E069-48021
chr78707187521E069-47438
chr7129404129500E069-5459
chr7130499130570E069-4389
chr7130949130999E069-3960
chr7131010131097E069-3862
chr7131129131199E069-3760
chr7131274131374E069-3585
chr7131378132209E069-2750
chr7132245132312E069-2647
chr7132501132551E069-2408
chr7153340153450E06918381
chr7153504153554E06918545
chr7153575153688E06918616
chr7153812154175E06918853
chr7154516154819E06919557
chr7155307155932E06920348
chr7156020156143E06921061
chr7156239156304E06921280
chr78676686938E070-48021
chr78707187521E070-47438
chr79146091541E070-43418
chr79155891670E070-43289
chr79175091956E070-43003
chr79198192757E070-42202
chr79281593083E070-41876
chr7131378132209E070-2750
chr7132245132312E070-2647
chr7139211139542E0704252
chr7184224184304E07049265
chr7184345184546E07049386
chr78537885484E071-49475
chr78549385634E071-49325
chr78564085878E071-49081
chr78598686036E071-48923
chr78631786480E071-48479
chr78654886600E071-48359
chr78661686716E071-48243
chr78676686938E071-48021
chr78707187521E071-47438
chr7116435116683E071-18276
chr7116685116789E071-18170
chr7116837116907E071-18052
chr7118254118325E071-16634
chr7118480118938E071-16021
chr7130499130570E071-4389
chr7130949130999E071-3960
chr7131010131097E071-3862
chr7131129131199E071-3760
chr7131274131374E071-3585
chr7131378132209E071-2750
chr7132245132312E071-2647
chr7150683151105E07115724
chr7152875153305E07117916
chr7153340153450E07118381
chr7153504153554E07118545
chr7153575153688E07118616
chr7153812154175E07118853
chr7154516154819E07119557
chr7155307155932E07120348
chr7156020156143E07121061
chr7162159162862E07127200
chr7162883163215E07127924
chr7167781167949E07132822
chr7168132168187E07133173
chr78631786480E072-48479
chr78654886600E072-48359
chr78661686716E072-48243
chr78676686938E072-48021
chr78707187521E072-47438
chr78765087731E072-47228
chr78777887818E072-47141
chr78784688018E072-46941
chr7130499130570E072-4389
chr7130949130999E072-3960
chr7131010131097E072-3862
chr7131129131199E072-3760
chr7131274131374E072-3585
chr7131378132209E072-2750
chr7132245132312E072-2647
chr7132501132551E072-2408
chr7153340153450E07218381
chr7153504153554E07218545
chr7153575153688E07218616
chr7153812154175E07218853
chr7154516154819E07219557
chr7155307155932E07220348
chr7156020156143E07221061
chr7162159162862E07227200
chr7162883163215E07227924
chr78661686716E073-48243
chr78676686938E073-48021
chr7129404129500E073-5459
chr7130499130570E073-4389
chr7130949130999E073-3960
chr7131010131097E073-3862
chr7131129131199E073-3760
chr7131274131374E073-3585
chr7131378132209E073-2750
chr7132245132312E073-2647
chr7132501132551E073-2408
chr7153575153688E07318616
chr7153812154175E07318853
chr7154516154819E07319557
chr7155307155932E07320348
chr7162883163215E07327924
chr7163579163742E07328620
chr7163748163842E07328789
chr78528085352E074-49607
chr78631786480E074-48479
chr78654886600E074-48359
chr78661686716E074-48243
chr78676686938E074-48021
chr78707187521E074-47438
chr78765087731E074-47228
chr78777887818E074-47141
chr78784688018E074-46941
chr7130499130570E074-4389
chr7130949130999E074-3960
chr7131010131097E074-3862
chr7131129131199E074-3760
chr7131274131374E074-3585
chr7131378132209E074-2750
chr7132245132312E074-2647
chr7153575153688E07418616
chr7153812154175E07418853
chr7154516154819E07419557
chr7155307155932E07420348
chr7156020156143E07421061
chr78503985089E081-49870
chr78509785177E081-49782
chr78528085352E081-49607
chr78537885484E081-49475
chr78549385634E081-49325
chr78631786480E081-48479
chr78654886600E081-48359
chr78661686716E081-48243
chr78676686938E081-48021
chr79131891398E081-43561
chr79146091541E081-43418
chr79155891670E081-43289
chr79175091956E081-43003
chr79198192757E081-42202
chr79281593083E081-41876
chr79314393549E081-41410
chr7123886123943E081-11016
chr7129404129500E081-5459
chr7129546130463E081-4496
chr7130499130570E081-4389
chr7130949130999E081-3960
chr7131010131097E081-3862
chr7131129131199E081-3760
chr7131274131374E081-3585
chr7131378132209E081-2750
chr7132245132312E081-2647
chr7132501132551E081-2408
chr7139211139542E0814252
chr7139553139853E0814594
chr7142066142157E0817107
chr7142186142794E0817227
chr7142856142928E0817897
chr7142958143038E0817999
chr7143111143290E0818152
chr7161815162008E08126856
chr7162159162862E08127200
chr7162883163215E08127924
chr79111091317E082-43642
chr79131891398E082-43561
chr79146091541E082-43418
chr79155891670E082-43289
chr79175091956E082-43003
chr79198192757E082-42202
chr79281593083E082-41876
chr79314393549E082-41410
chr79422494268E082-40691
chr7129404129500E082-5459
chr7129546130463E082-4496
chr7130499130570E082-4389
chr7131378132209E082-2750
chr7132245132312E082-2647
chr7139211139542E0824252
chr7142066142157E0827107
chr7142186142794E0827227
chr7162159162862E08227200
chr7162883163215E08227924
chr7163317163483E08228358
chr7163579163742E08228620










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7148446148853E06713487
chr7148860150602E06713901
chr7148446148853E06813487
chr7148860150602E06813901
chr7148446148853E06913487
chr7148860150602E06913901
chr7148446148853E07013487
chr7148860150602E07013901
chr7148446148853E07113487
chr7148860150602E07113901
chr7148446148853E07213487
chr7148860150602E07213901
chr7148446148853E07313487
chr7148860150602E07313901
chr7148446148853E07413487
chr7148860150602E07413901
chr7148446148853E08113487
chr7148446148853E08213487
chr7148860150602E08213901