rs2204607

Homo sapiens
C>T
MGAM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0098 (2938/29918,GnomAD)
T=0091 (2674/29118,TOPMED)
T=0098 (490/5008,1000G)
T=0133 (511/3854,ALSPAC)
T=0128 (473/3708,TWINSUK)
chr7:142009894 (GRCh38.p7) (7q34)
AD
GWASdb2
1   publication(s)
See rs on genome
231 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.142009894C>T
GRCh37.p13 chr 7 fix patch HG7_PATCHNW_003571040.1:g.151845C>T
MGAM RefSeqGeneNG_033954.1:g.19016C>T
GRCh37.p13 chr 7NC_000007.13:g.141709694C>T

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 X9XM_011516674.2:c.N/AIntron Variant
MGAM transcript variant X3XM_017012772.1:c.N/AIntron Variant
MGAM transcript variant X7XR_927545.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.968T=0.032
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.827T=0.173
1000GenomesEuropeSub1006C=0.885T=0.115
1000GenomesGlobalStudy-wide5008C=0.902T=0.098
1000GenomesSouth AsianSub978C=0.910T=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.867T=0.133
The Genome Aggregation DatabaseAfricanSub8714C=0.951T=0.049
The Genome Aggregation DatabaseAmericanSub836C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1594C=0.780T=0.220
The Genome Aggregation DatabaseEuropeSub18472C=0.888T=0.111
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.901T=0.098
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.908T=0.091
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.872T=0.128
PMID Title Author Journal
19782709Variation in the gene TAS2R38 is associated with the eating behavior disinhibition in Old Order Amish women.Dotson CDAppetite

P-Value

SNP ID p-value Traits Study
rs22046070.0000565alcohol consumptionpha001401
rs22046070.0000692alcohol consumptionpha001399

eQTL of rs2204607 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 rs2204607 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 )
chr7129546130463E067-21382
chr7130499130570E067-21275
chr7130949130999E067-20846
chr7131010131097E067-20748
chr7131129131199E067-20646
chr7131274131374E067-20471
chr7131378132209E067-19636
chr7132245132312E067-19533
chr7132501132551E067-19294
chr7153575153688E0671730
chr7153812154175E0671967
chr7154516154819E0672671
chr7155307155932E0673462
chr7195695195752E06743850
chr7195786195928E06743941
chr7196007196061E06744162
chr7196170196241E06744325
chr7196248196330E06744403
chr7196401196506E06744556
chr7116685116789E068-35056
chr7118480118938E068-32907
chr7119015119223E068-32622
chr7119356120217E068-31628
chr7129404129500E068-22345
chr7129546130463E068-21382
chr7130499130570E068-21275
chr7130949130999E068-20846
chr7131010131097E068-20748
chr7131129131199E068-20646
chr7131274131374E068-20471
chr7131378132209E068-19636
chr7132245132312E068-19533
chr7132501132551E068-19294
chr7153575153688E0681730
chr7153812154175E0681967
chr7154516154819E0682671
chr7155307155932E0683462
chr7191000191143E06839155
chr7196622196692E06844777
chr7196762196864E06844917
chr7196909197060E06845064
chr7197158197322E06845313
chr7198052198245E06846207
chr7198564198623E06846719
chr7198842198896E06846997
chr7198981199076E06847136
chr7199146199216E06847301
chr7199300199340E06847455
chr7129404129500E069-22345
chr7130499130570E069-21275
chr7130949130999E069-20846
chr7131010131097E069-20748
chr7131129131199E069-20646
chr7131274131374E069-20471
chr7131378132209E069-19636
chr7132245132312E069-19533
chr7132501132551E069-19294
chr7153340153450E0691495
chr7153504153554E0691659
chr7153575153688E0691730
chr7153812154175E0691967
chr7154516154819E0692671
chr7155307155932E0693462
chr7156020156143E0694175
chr7156239156304E0694394
chr7191000191143E06939155
chr7195695195752E06943850
chr7195786195928E06943941
chr7196007196061E06944162
chr7196170196241E06944325
chr7197158197322E06945313
chr7197490197573E06945645
chr7131378132209E070-19636
chr7132245132312E070-19533
chr7139211139542E070-12303
chr7184224184304E07032379
chr7184345184546E07032500
chr7191000191143E07039155
chr7196622196692E07044777
chr7196762196864E07044917
chr7196909197060E07045064
chr7116435116683E071-35162
chr7116685116789E071-35056
chr7116837116907E071-34938
chr7118254118325E071-33520
chr7118480118938E071-32907
chr7130499130570E071-21275
chr7130949130999E071-20846
chr7131010131097E071-20748
chr7131129131199E071-20646
chr7131274131374E071-20471
chr7131378132209E071-19636
chr7132245132312E071-19533
chr7150683151105E071-740
chr7152875153305E0711030
chr7153340153450E0711495
chr7153504153554E0711659
chr7153575153688E0711730
chr7153812154175E0711967
chr7154516154819E0712671
chr7155307155932E0713462
chr7156020156143E0714175
chr7162159162862E07110314
chr7162883163215E07111038
chr7167781167949E07115936
chr7168132168187E07116287
chr7191000191143E07139155
chr7195695195752E07143850
chr7195786195928E07143941
chr7196007196061E07144162
chr7196170196241E07144325
chr7196248196330E07144403
chr7196401196506E07144556
chr7196622196692E07144777
chr7196762196864E07144917
chr7196909197060E07145064
chr7197158197322E07145313
chr7130499130570E072-21275
chr7130949130999E072-20846
chr7131010131097E072-20748
chr7131129131199E072-20646
chr7131274131374E072-20471
chr7131378132209E072-19636
chr7132245132312E072-19533
chr7132501132551E072-19294
chr7153340153450E0721495
chr7153504153554E0721659
chr7153575153688E0721730
chr7153812154175E0721967
chr7154516154819E0722671
chr7155307155932E0723462
chr7156020156143E0724175
chr7162159162862E07210314
chr7162883163215E07211038
chr7191000191143E07239155
chr7195786195928E07243941
chr7196007196061E07244162
chr7196170196241E07244325
chr7196248196330E07244403
chr7196401196506E07244556
chr7199146199216E07247301
chr7199300199340E07247455
chr7199407199501E07247562
chr7199534199748E07247689
chr7129404129500E073-22345
chr7130499130570E073-21275
chr7130949130999E073-20846
chr7131010131097E073-20748
chr7131129131199E073-20646
chr7131274131374E073-20471
chr7131378132209E073-19636
chr7132245132312E073-19533
chr7132501132551E073-19294
chr7153575153688E0731730
chr7153812154175E0731967
chr7154516154819E0732671
chr7155307155932E0733462
chr7162883163215E07311038
chr7163579163742E07311734
chr7163748163842E07311903
chr7190847190921E07339002
chr7191000191143E07339155
chr7195695195752E07343850
chr7195786195928E07343941
chr7196007196061E07344162
chr7196170196241E07344325
chr7196248196330E07344403
chr7196401196506E07344556
chr7130499130570E074-21275
chr7130949130999E074-20846
chr7131010131097E074-20748
chr7131129131199E074-20646
chr7131274131374E074-20471
chr7131378132209E074-19636
chr7132245132312E074-19533
chr7153575153688E0741730
chr7153812154175E0741967
chr7154516154819E0742671
chr7155307155932E0743462
chr7156020156143E0744175
chr7195695195752E07443850
chr7195786195928E07443941
chr7123886123943E081-27902
chr7129404129500E081-22345
chr7129546130463E081-21382
chr7130499130570E081-21275
chr7130949130999E081-20846
chr7131010131097E081-20748
chr7131129131199E081-20646
chr7131274131374E081-20471
chr7131378132209E081-19636
chr7132245132312E081-19533
chr7132501132551E081-19294
chr7139211139542E081-12303
chr7139553139853E081-11992
chr7142066142157E081-9688
chr7142186142794E081-9051
chr7142856142928E081-8917
chr7142958143038E081-8807
chr7143111143290E081-8555
chr7161815162008E0819970
chr7162159162862E08110314
chr7162883163215E08111038
chr7190280190558E08138435
chr7190847190921E08139002
chr7191000191143E08139155
chr7195695195752E08143850
chr7195786195928E08143941
chr7196007196061E08144162
chr7196170196241E08144325
chr7196248196330E08144403
chr7129404129500E082-22345
chr7129546130463E082-21382
chr7130499130570E082-21275
chr7131378132209E082-19636
chr7132245132312E082-19533
chr7139211139542E082-12303
chr7142066142157E082-9688
chr7142186142794E082-9051
chr7162159162862E08210314
chr7162883163215E08211038
chr7163317163483E08211472
chr7163579163742E08211734
chr7191000191143E08239155
chr7196007196061E08244162
chr7196170196241E08244325
chr7196248196330E08244403
chr7196401196506E08244556
chr7196622196692E08244777
chr7196762196864E08244917
chr7199534199748E08247689










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7148446148853E067-2992
chr7148860150602E067-1243
chr7191198193609E06739353
chr7148446148853E068-2992
chr7148860150602E068-1243
chr7191198193609E06839353
chr7148446148853E069-2992
chr7148860150602E069-1243
chr7191198193609E06939353
chr7148446148853E070-2992
chr7148860150602E070-1243
chr7191198193609E07039353
chr7148446148853E071-2992
chr7148860150602E071-1243
chr7191198193609E07139353
chr7148446148853E072-2992
chr7148860150602E072-1243
chr7191198193609E07239353
chr7148446148853E073-2992
chr7148860150602E073-1243
chr7191198193609E07339353
chr7148446148853E074-2992
chr7148860150602E074-1243
chr7191198193609E07439353
chr7148446148853E081-2992
chr7148446148853E082-2992
chr7148860150602E082-1243
chr7191198193609E08239353