rs17132242

Homo sapiens
G>A
MAD1L1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0091 (2733/29918,GnomAD)
A=0124 (3612/29118,TOPMED)
A=0101 (506/5008,1000G)
A=0032 (124/3854,ALSPAC)
A=0026 (96/3708,TWINSUK)
chr7:2139827 (GRCh38.p7) (7p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.2139827G>A
GRCh37.p13 chr 7NC_000007.13:g.2179462G>A
MAD1L1 RefSeqGeneNG_011518.1:g.98122C>T

Gene: MAD1L1, MAD1 mitotic arrest deficient like 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MAD1L1 transcript variant 2NM_001013836.1:c.N/AIntron Variant
MAD1L1 transcript variant 3NM_001013837.1:c.N/AIntron Variant
MAD1L1 transcript variant 4NM_001304523.1:c.N/AIntron Variant
MAD1L1 transcript variant 5NM_001304524.1:c.N/AIntron Variant
MAD1L1 transcript variant 1NM_003550.2:c.N/AIntron Variant
MAD1L1 transcript variant 6NM_001304525.1:c.N/AGenic Upstream Transcript Variant
MAD1L1 transcript variant X4XM_005249877.1:c.N/AIntron Variant
MAD1L1 transcript variant X2XM_011515567.1:c.N/AIntron Variant
MAD1L1 transcript variant X4XM_011515568.2:c.N/AIntron Variant
MAD1L1 transcript variant X8XM_011515571.1:c.N/AIntron Variant
MAD1L1 transcript variant X1XM_017012690.1:c.N/AIntron Variant
MAD1L1 transcript variant X6XM_017012691.1:c.N/AIntron Variant
MAD1L1 transcript variant X5XM_011515569.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.717A=0.283
1000GenomesAmericanSub694G=0.950A=0.050
1000GenomesEast AsianSub1008G=0.994A=0.006
1000GenomesEuropeSub1006G=0.974A=0.026
1000GenomesGlobalStudy-wide5008G=0.899A=0.101
1000GenomesSouth AsianSub978G=0.940A=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.968A=0.032
The Genome Aggregation DatabaseAfricanSub8684G=0.751A=0.249
The Genome Aggregation DatabaseAmericanSub836G=0.920A=0.080
The Genome Aggregation DatabaseEast AsianSub1622G=0.998A=0.002
The Genome Aggregation DatabaseEuropeSub18474G=0.973A=0.026
The Genome Aggregation DatabaseGlobalStudy-wide29918G=0.908A=0.091
The Genome Aggregation DatabaseOtherSub302G=0.970A=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.876A=0.124
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.974A=0.026
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs171322422.8E-05alcohol craving with or without dependence22481050

eQTL of rs17132242 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 rs17132242 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 )
chr721434292143574E067-35888
chr721435782145463E067-33999
chr721454692147430E067-32032
chr721474802147745E067-31717
chr721477712151146E067-28316
chr721511512151334E067-28128
chr721513742151589E067-27873
chr721516142151776E067-27686
chr721518752152300E067-27162
chr721523732152690E067-26772
chr721552042155272E067-24190
chr721552752155371E067-24091
chr721554122156172E067-23290
chr721562322156343E067-23119
chr721564012156530E067-22932
chr721565852157204E067-22258
chr721610112161100E067-18362
chr721611392161193E067-18269
chr721612102161338E067-18124
chr721613622161502E067-17960
chr721745502174656E067-4806
chr721809152180977E0671453
chr721810702181120E0671608
chr721900632190646E06710601
chr721906712190882E06711209
chr721910002191188E06711538
chr721911902191690E06711728
chr721917012191886E06712239
chr721965132196706E06717051
chr721967312196781E06717269
chr721968852198183E06717423
chr721982982198741E06718836
chr722026522202958E06723190
chr722033072203967E06723845
chr722054442206481E06725982
chr722065142206619E06727052
chr722066842206928E06727222
chr722123722213240E06732910
chr722132492213343E06733787
chr722135132213674E06734051
chr722219612222077E06742499
chr722223362222407E06742874
chr721434292143574E068-35888
chr721435782145463E068-33999
chr721454692147430E068-32032
chr721474802147745E068-31717
chr721477712151146E068-28316
chr721511512151334E068-28128
chr721513742151589E068-27873
chr721516142151776E068-27686
chr721554122156172E068-23290
chr721562322156343E068-23119
chr721564012156530E068-22932
chr721565852157204E068-22258
chr721906712190882E06811209
chr721910002191188E06811538
chr721911902191690E06811728
chr721917012191886E06812239
chr721964062196456E06816944
chr721965132196706E06817051
chr721967312196781E06817269
chr721968852198183E06817423
chr722033072203967E06823845
chr721366452137032E069-42430
chr721370722137166E069-42296
chr721371832137400E069-42062
chr721374372137944E069-41518
chr721429962143166E069-36296
chr721432352143398E069-36064
chr721434292143574E069-35888
chr721435782145463E069-33999
chr721454692147430E069-32032
chr721474802147745E069-31717
chr721477712151146E069-28316
chr721511512151334E069-28128
chr721513742151589E069-27873
chr721516142151776E069-27686
chr721518752152300E069-27162
chr721549002154940E069-24522
chr721552042155272E069-24190
chr721552752155371E069-24091
chr721554122156172E069-23290
chr721562322156343E069-23119
chr721564012156530E069-22932
chr721565852157204E069-22258
chr721574252157498E069-21964
chr721575432157620E069-21842
chr721741302174180E069-5282
chr721800832180914E069621
chr721809152180977E0691453
chr721810702181120E0691608
chr721813452181444E0691883
chr721816302181717E0692168
chr721894012189618E0699939
chr721899192189969E06910457
chr721900632190646E06910601
chr721906712190882E06911209
chr721910002191188E06911538
chr721911902191690E06911728
chr721917012191886E06912239
chr721920272192081E06912565
chr721921042192224E06912642
chr721968852198183E06917423
chr721982982198741E06918836
chr721988172199700E06919355
chr722023482202488E06922886
chr722025172202604E06923055
chr722026522202958E06923190
chr722033072203967E06923845
chr722054442206481E06925982
chr722065142206619E06927052
chr722066842206928E06927222
chr722122692212368E06932807
chr722123722213240E06932910
chr722219612222077E06942499
chr721366452137032E070-42430
chr721370722137166E070-42296
chr721371832137400E070-42062
chr721374372137944E070-41518
chr721379452138507E070-40955
chr721385282138578E070-40884
chr721386662138711E070-40751
chr721387212138873E070-40589
chr721388902140873E070-38589
chr721408762140930E070-38532
chr721411972141285E070-38177
chr721426242142674E070-36788
chr721426902142822E070-36640
chr721428932142943E070-36519
chr721429962143166E070-36296
chr721432352143398E070-36064
chr721434292143574E070-35888
chr721435782145463E070-33999
chr721454692147430E070-32032
chr721477712151146E070-28316
chr721511512151334E070-28128
chr721513742151589E070-27873
chr721516142151776E070-27686
chr721518752152300E070-27162
chr721523732152690E070-26772
chr721536852154093E070-25369
chr721542012154424E070-25038
chr721545132154719E070-24743
chr721549002154940E070-24522
chr721552042155272E070-24190
chr721552752155371E070-24091
chr721554122156172E070-23290
chr721562322156343E070-23119
chr721564012156530E070-22932
chr721565852157204E070-22258
chr721596302160255E070-19207
chr721602972160356E070-19106
chr721603842160485E070-18977
chr721606052160939E070-18523
chr721610112161100E070-18362
chr721611392161193E070-18269
chr721612102161338E070-18124
chr721613622161502E070-17960
chr721635342163619E070-15843
chr721637672163818E070-15644
chr721638832164000E070-15462
chr721784162178699E070-763
chr721787452178795E070-667
chr721789702179110E070-352
chr721791122179293E070-169
chr721793322179453E070-9
chr721795602179618E07098
chr721797022179857E070240
chr721800832180914E070621
chr721810702181120E0701608
chr721813452181444E0701883
chr721816302181717E0702168
chr721822222182313E0702760
chr721823332182383E0702871
chr721899192189969E07010457
chr721900632190646E07010601
chr721906712190882E07011209
chr721910002191188E07011538
chr721911902191690E07011728
chr721917012191886E07012239
chr721964062196456E07016944
chr721965132196706E07017051
chr721967312196781E07017269
chr721968852198183E07017423
chr721982982198741E07018836
chr722033072203967E07023845
chr722054442206481E07025982
chr722120032212135E07032541
chr722121502212200E07032688
chr722122692212368E07032807
chr722123722213240E07032910
chr722132492213343E07033787
chr722135132213674E07034051
chr722255692225672E07046107
chr722260732226422E07046611
chr721411972141285E071-38177
chr721432352143398E071-36064
chr721434292143574E071-35888
chr721435782145463E071-33999
chr721454692147430E071-32032
chr721474802147745E071-31717
chr721477712151146E071-28316
chr721511512151334E071-28128
chr721513742151589E071-27873
chr721516142151776E071-27686
chr721518752152300E071-27162
chr721554122156172E071-23290
chr721562322156343E071-23119
chr721564012156530E071-22932
chr721565852157204E071-22258
chr721602972160356E071-19106
chr721603842160485E071-18977
chr721606052160939E071-18523
chr721735452173616E071-5846
chr721739512174001E071-5461
chr721741302174180E071-5282
chr721800832180914E071621
chr721809152180977E0711453
chr721810702181120E0711608
chr721813452181444E0711883
chr721816302181717E0712168
chr721894012189618E0719939
chr721899192189969E07110457
chr721900632190646E07110601
chr721906712190882E07111209
chr721910002191188E07111538
chr721911902191690E07111728
chr721917012191886E07112239
chr721965132196706E07117051
chr721967312196781E07117269
chr721968852198183E07117423
chr721982982198741E07118836
chr722023482202488E07122886
chr722025172202604E07123055
chr722026522202958E07123190
chr722033072203967E07123845
chr722054442206481E07125982
chr722065142206619E07127052
chr722123722213240E07132910
chr722132492213343E07133787
chr722223362222407E07142874
chr721388902140873E072-38589
chr721408762140930E072-38532
chr721411972141285E072-38177
chr721413652142226E072-37236
chr721422572142368E072-37094
chr721425072142587E072-36875
chr721426242142674E072-36788
chr721426902142822E072-36640
chr721428932142943E072-36519
chr721429962143166E072-36296
chr721432352143398E072-36064
chr721434292143574E072-35888
chr721435782145463E072-33999
chr721454692147430E072-32032
chr721474802147745E072-31717
chr721477712151146E072-28316
chr721511512151334E072-28128
chr721513742151589E072-27873
chr721516142151776E072-27686
chr721518752152300E072-27162
chr721552042155272E072-24190
chr721552752155371E072-24091
chr721554122156172E072-23290
chr721562322156343E072-23119
chr721564012156530E072-22932
chr721565852157204E072-22258
chr721606052160939E072-18523
chr721610112161100E072-18362
chr721611392161193E072-18269
chr721612102161338E072-18124
chr721613622161502E072-17960
chr721739512174001E072-5461
chr721741302174180E072-5282
chr721745502174656E072-4806
chr721809152180977E0721453
chr721810702181120E0721608
chr721813452181444E0721883
chr721816302181717E0722168
chr721900632190646E07210601
chr721906712190882E07211209
chr721910002191188E07211538
chr721911902191690E07211728
chr721917012191886E07212239
chr721920272192081E07212565
chr721921042192224E07212642
chr721964062196456E07216944
chr721965132196706E07217051
chr721967312196781E07217269
chr721968852198183E07217423
chr721982982198741E07218836
chr722023482202488E07222886
chr722025172202604E07223055
chr722026522202958E07223190
chr722033072203967E07223845
chr722043752204435E07224913
chr722044532204560E07224991
chr722051722205402E07225710
chr722054442206481E07225982
chr722065142206619E07227052
chr722066842206928E07227222
chr722122692212368E07232807
chr722123722213240E07232910
chr721432352143398E073-36064
chr721434292143574E073-35888
chr721435782145463E073-33999
chr721454692147430E073-32032
chr721474802147745E073-31717
chr721477712151146E073-28316
chr721511512151334E073-28128
chr721513742151589E073-27873
chr721516142151776E073-27686
chr721518752152300E073-27162
chr721552042155272E073-24190
chr721552752155371E073-24091
chr721554122156172E073-23290
chr721562322156343E073-23119
chr721564012156530E073-22932
chr721565852157204E073-22258
chr721800832180914E073621
chr721809152180977E0731453
chr721810702181120E0731608
chr721813452181444E0731883
chr721816302181717E0732168
chr721906712190882E07311209
chr721910002191188E07311538
chr721911902191690E07311728
chr721917012191886E07312239
chr721965132196706E07317051
chr721967312196781E07317269
chr721968852198183E07317423
chr722054442206481E07325982
chr722065142206619E07327052
chr722066842206928E07327222
chr722123722213240E07332910
chr722132492213343E07333787
chr721413652142226E074-37236
chr721432352143398E074-36064
chr721434292143574E074-35888
chr721435782145463E074-33999
chr721454692147430E074-32032
chr721474802147745E074-31717
chr721477712151146E074-28316
chr721511512151334E074-28128
chr721513742151589E074-27873
chr721516142151776E074-27686
chr721518752152300E074-27162
chr721549002154940E074-24522
chr721552042155272E074-24190
chr721552752155371E074-24091
chr721554122156172E074-23290
chr721562322156343E074-23119
chr721564012156530E074-22932
chr721565852157204E074-22258
chr721596302160255E074-19207
chr721602972160356E074-19106
chr721603842160485E074-18977
chr721610112161100E074-18362
chr721611392161193E074-18269
chr721739512174001E074-5461
chr721741302174180E074-5282
chr721800832180914E074621
chr721809152180977E0741453
chr721810702181120E0741608
chr721899192189969E07410457
chr721900632190646E07410601
chr721906712190882E07411209
chr721910002191188E07411538
chr721911902191690E07411728
chr721917012191886E07412239
chr721920272192081E07412565
chr721921042192224E07412642
chr721964062196456E07416944
chr721965132196706E07417051
chr721967312196781E07417269
chr721968852198183E07417423
chr721982982198741E07418836
chr722026522202958E07423190
chr722033072203967E07423845
chr722054442206481E07425982
chr722065142206619E07427052
chr722066842206928E07427222
chr722123722213240E07432910
chr722132492213343E07433787
chr721335822133746E081-45716
chr721385282138578E081-40884
chr721386662138711E081-40751
chr721387212138873E081-40589
chr721388902140873E081-38589
chr721408762140930E081-38532
chr721432352143398E081-36064
chr721434292143574E081-35888
chr721435782145463E081-33999
chr721454692147430E081-32032
chr721474802147745E081-31717
chr721477712151146E081-28316
chr721511512151334E081-28128
chr721513742151589E081-27873
chr721516142151776E081-27686
chr721518752152300E081-27162
chr721523732152690E081-26772
chr721562322156343E081-23119
chr721564012156530E081-22932
chr721565852157204E081-22258
chr721596302160255E081-19207
chr721602972160356E081-19106
chr721603842160485E081-18977
chr721606052160939E081-18523
chr721691142169309E081-10153
chr721698812170082E081-9380
chr721702552170305E081-9157
chr721703622170405E081-9057
chr721704842170574E081-8888
chr721705962170691E081-8771
chr721706942170744E081-8718
chr721707642170814E081-8648
chr721708772171133E081-8329
chr721711672171322E081-8140
chr721713892171450E081-8012
chr721718812171961E081-7501
chr721784162178699E081-763
chr721787452178795E081-667
chr721789702179110E081-352
chr721791122179293E081-169
chr721793322179453E081-9
chr721795602179618E08198
chr721797022179857E081240
chr721800832180914E081621
chr721809152180977E0811453
chr721810702181120E0811608
chr721813452181444E0811883
chr721816302181717E0812168
chr721822222182313E0812760
chr721823332182383E0812871
chr721827052182749E0813243
chr721900632190646E08110601
chr721906712190882E08111209
chr721910002191188E08111538
chr721911902191690E08111728
chr721917012191886E08112239
chr721964062196456E08116944
chr721965132196706E08117051
chr721967312196781E08117269
chr721968852198183E08117423
chr721982982198741E08118836
chr722026522202958E08123190
chr722033072203967E08123845
chr722043752204435E08124913
chr722123722213240E08132910
chr722132492213343E08133787
chr722135132213674E08134051
chr721385282138578E082-40884
chr721386662138711E082-40751
chr721387212138873E082-40589
chr721388902140873E082-38589
chr721435782145463E082-33999
chr721454692147430E082-32032
chr721474802147745E082-31717
chr721477712151146E082-28316
chr721511512151334E082-28128
chr721513742151589E082-27873
chr721516142151776E082-27686
chr721518752152300E082-27162
chr721523732152690E082-26772
chr721562322156343E082-23119
chr721564012156530E082-22932
chr721565852157204E082-22258
chr721795602179618E08298
chr721797022179857E082240
chr721800832180914E082621
chr721809152180977E0821453
chr721810702181120E0821608
chr721813452181444E0821883
chr721816302181717E0822168
chr721822222182313E0822760
chr721823332182383E0822871
chr721827052182749E0823243
chr721829732183083E0823511
chr721900632190646E08210601
chr721906712190882E08211209
chr721910002191188E08211538
chr721911902191690E08211728
chr721968852198183E08217423
chr721982982198741E08218836
chr722026522202958E08223190
chr722033072203967E08223845
chr722116262211921E08232164
chr722120032212135E08232541
chr722121502212200E08232688
chr722122692212368E08232807
chr722123722213240E08232910
chr722132492213343E08233787
chr722135132213674E08234051