rs11158907

Homo sapiens
A>G
SIPA1L1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0119 (3587/29934,GnomAD)
G=0101 (2959/29118,TOPMED)
G=0191 (957/5008,1000G)
G=0128 (495/3854,ALSPAC)
G=0129 (477/3708,TWINSUK)
chr14:71520348 (GRCh38.p7) (14q24.2)
AD
GWASCatalog
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.71520348A>G
GRCh37.p13 chr 14NC_000014.8:g.71987065A>G

Gene: SIPA1L1, signal induced proliferation associated 1 like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SIPA1L1 transcript variant 2NM_001284245.1:c.N/AGenic Upstream Transcript Variant
SIPA1L1 transcript variant 3NM_001284246.1:c.N/AGenic Upstream Transcript Variant
SIPA1L1 transcript variant 4NM_001284247.1:c.N/AGenic Upstream Transcript Variant
SIPA1L1 transcript variant 1NM_015556.2:c.N/AGenic Upstream Transcript Variant
SIPA1L1 transcript variant X31XM_006720111.2:c.N/AIntron Variant
SIPA1L1 transcript variant X2XM_011536630.1:c.N/AIntron Variant
SIPA1L1 transcript variant X3XM_011536631.1:c.N/AIntron Variant
SIPA1L1 transcript variant X7XM_011536632.1:c.N/AIntron Variant
SIPA1L1 transcript variant X26XM_011536635.2:c.N/AIntron Variant
SIPA1L1 transcript variant X1XM_017021159.1:c.N/AIntron Variant
SIPA1L1 transcript variant X2XM_017021160.1:c.N/AIntron Variant
SIPA1L1 transcript variant X3XM_017021161.1:c.N/AIntron Variant
SIPA1L1 transcript variant X4XM_017021162.1:c.N/AIntron Variant
SIPA1L1 transcript variant X5XM_017021163.1:c.N/AIntron Variant
SIPA1L1 transcript variant X6XM_017021164.1:c.N/AIntron Variant
SIPA1L1 transcript variant X7XM_017021165.1:c.N/AIntron Variant
SIPA1L1 transcript variant X9XM_017021166.1:c.N/AIntron Variant
SIPA1L1 transcript variant X10XM_017021167.1:c.N/AIntron Variant
SIPA1L1 transcript variant X11XM_017021168.1:c.N/AIntron Variant
SIPA1L1 transcript variant X12XM_017021169.1:c.N/AIntron Variant
SIPA1L1 transcript variant X13XM_017021170.1:c.N/AIntron Variant
SIPA1L1 transcript variant X14XM_017021171.1:c.N/AIntron Variant
SIPA1L1 transcript variant X15XM_017021172.1:c.N/AIntron Variant
SIPA1L1 transcript variant X16XM_017021173.1:c.N/AIntron Variant
SIPA1L1 transcript variant X17XM_017021174.1:c.N/AIntron Variant
SIPA1L1 transcript variant X18XM_017021175.1:c.N/AIntron Variant
SIPA1L1 transcript variant X19XM_017021176.1:c.N/AIntron Variant
SIPA1L1 transcript variant X4XM_017021177.1:c.N/AIntron Variant
SIPA1L1 transcript variant X5XM_017021178.1:c.N/AIntron Variant
SIPA1L1 transcript variant X8XM_017021179.1:c.N/AIntron Variant
SIPA1L1 transcript variant X9XM_017021180.1:c.N/AIntron Variant
SIPA1L1 transcript variant X28XM_017021181.1:c.N/AIntron Variant
SIPA1L1 transcript variant X29XM_017021182.1:c.N/AIntron Variant
SIPA1L1 transcript variant X30XM_017021183.1:c.N/AIntron Variant
SIPA1L1 transcript variant X32XM_017021184.1:c.N/AIntron Variant
SIPA1L1 transcript variant X34XM_017021186.1:c.N/AIntron Variant
SIPA1L1 transcript variant X35XM_017021187.1:c.N/AIntron Variant
SIPA1L1 transcript variant X36XM_017021188.1:c.N/AIntron Variant
SIPA1L1 transcript variant X37XM_017021189.1:c.N/AIntron Variant
SIPA1L1 transcript variant X38XM_017021190.1:c.N/AIntron Variant
SIPA1L1 transcript variant X39XM_017021191.1:c.N/AIntron Variant
SIPA1L1 transcript variant X40XM_017021192.1:c.N/AIntron Variant
SIPA1L1 transcript variant X41XM_017021193.1:c.N/AIntron Variant
SIPA1L1 transcript variant X42XM_017021194.1:c.N/AIntron Variant
SIPA1L1 transcript variant X43XM_017021195.1:c.N/AIntron Variant
SIPA1L1 transcript variant X44XM_017021196.1:c.N/AIntron Variant
SIPA1L1 transcript variant X19XM_017021197.1:c.N/AIntron Variant
SIPA1L1 transcript variant X20XM_017021198.1:c.N/AIntron Variant
SIPA1L1 transcript variant X21XM_017021199.1:c.N/AIntron Variant
SIPA1L1 transcript variant X48XM_017021200.1:c.N/AIntron Variant
SIPA1L1 transcript variant X11XM_005267516.4:c.N/AGenic Upstream Transcript Variant
SIPA1L1 transcript variant X23XM_011536638.2:c.N/AGenic Upstream Transcript Variant
SIPA1L1 transcript variant X13XM_017021185.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.949G=0.051
1000GenomesAmericanSub694A=0.840G=0.160
1000GenomesEast AsianSub1008A=0.586G=0.414
1000GenomesEuropeSub1006A=0.877G=0.123
1000GenomesGlobalStudy-wide5008A=0.809G=0.191
1000GenomesSouth AsianSub978A=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.872G=0.128
The Genome Aggregation DatabaseAfricanSub8718A=0.949G=0.051
The Genome Aggregation DatabaseAmericanSub838A=0.870G=0.130
The Genome Aggregation DatabaseEast AsianSub1598A=0.581G=0.419
The Genome Aggregation DatabaseEuropeSub18478A=0.876G=0.123
The Genome Aggregation DatabaseGlobalStudy-wide29934A=0.880G=0.119
The Genome Aggregation DatabaseOtherSub302A=0.720G=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.898G=0.101
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.871G=0.129
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs111589072E-06response to alcohol24277619

eQTL of rs11158907 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 rs11158907 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 )
chr147193827571938940E067-48125
chr147193902371939333E067-47732
chr147194041971940470E067-46595
chr147194064871940866E067-46199
chr147194088171940947E067-46118
chr147194100171941127E067-45938
chr147194115671941281E067-45784
chr147194132571941596E067-45469
chr147194166271941723E067-45342
chr147194172871941901E067-45164
chr147194198271942098E067-44967
chr147194212671942177E067-44888
chr147194233871942388E067-44677
chr147194257871943096E067-43969
chr147194498371945027E067-42038
chr147194527671945657E067-41408
chr147194574671945863E067-41202
chr147194789571948017E067-39048
chr147194811971948238E067-38827
chr147194846471948534E067-38531
chr147194872171948790E067-38275
chr147194880471948946E067-38119
chr147195044771950662E067-36403
chr147195087371950932E067-36133
chr147195125571951335E067-35730
chr147195144371951537E067-35528
chr147195195471952004E067-35061
chr147195404171954108E067-32957
chr147195431171954415E067-32650
chr147195520271955254E067-31811
chr147195536871956207E067-30858
chr147195794871958008E067-29057
chr147195807571958214E067-28851
chr147195902971959462E067-27603
chr147198149871981634E067-5431
chr147198166271982291E067-4774
chr147199639171996515E0679326
chr147199660471997060E0679539
chr147199917171999390E06712106
chr147199952871999609E06712463
chr147199964071999896E06712575
chr147199991071999954E06712845
chr147200011072000447E06713045
chr147200285272003568E06715787
chr147200440772004487E06717342
chr147200493872005351E06717873
chr147200550572007035E06718440
chr147201941872019627E06732353
chr147201968072019780E06732615
chr147202216172023812E06735096
chr147194041971940470E068-46595
chr147194064871940866E068-46199
chr147194088171940947E068-46118
chr147194100171941127E068-45938
chr147194115671941281E068-45784
chr147194132571941596E068-45469
chr147194166271941723E068-45342
chr147194172871941901E068-45164
chr147194198271942098E068-44967
chr147194212671942177E068-44888
chr147194233871942388E068-44677
chr147194257871943096E068-43969
chr147194527671945657E068-41408
chr147194574671945863E068-41202
chr147194872171948790E068-38275
chr147194880471948946E068-38119
chr147195044771950662E068-36403
chr147195144371951537E068-35528
chr147195195471952004E068-35061
chr147195387071953999E068-33066
chr147195404171954108E068-32957
chr147195431171954415E068-32650
chr147195459571954655E068-32410
chr147195520271955254E068-31811
chr147195536871956207E068-30858
chr147195807571958214E068-28851
chr147195902971959462E068-27603
chr147195966971959723E068-27342
chr147195984371959909E068-27156
chr147195996271960002E068-27063
chr147196004871960107E068-26958
chr147196434871965590E068-21475
chr147197552771975980E068-11085
chr147197611671976175E068-10890
chr147197619371976243E068-10822
chr147197744471977532E068-9533
chr147197753871977626E068-9439
chr147198104271981242E068-5823
chr147198149871981634E068-5431
chr147199660471997060E0689539
chr147199711771997194E06810052
chr147199786571997915E06810800
chr147199838871998483E06811323
chr147199849871998566E06811433
chr147199860771998657E06811542
chr147199917171999390E06812106
chr147199952871999609E06812463
chr147199964071999896E06812575
chr147199991071999954E06812845
chr147200011072000447E06813045
chr147200259572002653E06815530
chr147200285272003568E06815787
chr147200708972007605E06820024
chr147201005072010116E06822985
chr147203039972030528E06843334
chr147203069572030898E06843630
chr147203285472032904E06845789
chr147203309572033267E06846030
chr147203647172036626E06849406
chr147193827571938940E069-48125
chr147194064871940866E069-46199
chr147194088171940947E069-46118
chr147194100171941127E069-45938
chr147194115671941281E069-45784
chr147194132571941596E069-45469
chr147194166271941723E069-45342
chr147194172871941901E069-45164
chr147194198271942098E069-44967
chr147194212671942177E069-44888
chr147194233871942388E069-44677
chr147194257871943096E069-43969
chr147194527671945657E069-41408
chr147194574671945863E069-41202
chr147194880471948946E069-38119
chr147194911671949866E069-37199
chr147194986971950047E069-37018
chr147195011571950184E069-36881
chr147195044771950662E069-36403
chr147195087371950932E069-36133
chr147195125571951335E069-35730
chr147195144371951537E069-35528
chr147195195471952004E069-35061
chr147195387071953999E069-33066
chr147195404171954108E069-32957
chr147195431171954415E069-32650
chr147195459571954655E069-32410
chr147195471571954948E069-32117
chr147195520271955254E069-31811
chr147195536871956207E069-30858
chr147195794871958008E069-29057
chr147195807571958214E069-28851
chr147195862671959010E069-28055
chr147195902971959462E069-27603
chr147198166271982291E069-4774
chr147199047271990826E0693407
chr147199087671990969E0693811
chr147199639171996515E0699326
chr147199660471997060E0699539
chr147199711771997194E06910052
chr147199786571997915E06910800
chr147199917171999390E06912106
chr147199952871999609E06912463
chr147199964071999896E06912575
chr147199991071999954E06912845
chr147200011072000447E06913045
chr147200259572002653E06915530
chr147200285272003568E06915787
chr147200381972003867E06916754
chr147200394572003995E06916880
chr147200493872005351E06917873
chr147200550572007035E06918440
chr147200708972007605E06920024
chr147201760572017667E06930540
chr147201766972017719E06930604
chr147194041971940470E070-46595
chr147194064871940866E070-46199
chr147194088171940947E070-46118
chr147194100171941127E070-45938
chr147194115671941281E070-45784
chr147194132571941596E070-45469
chr147194166271941723E070-45342
chr147194172871941901E070-45164
chr147194198271942098E070-44967
chr147194212671942177E070-44888
chr147194233871942388E070-44677
chr147194257871943096E070-43969
chr147200120272001270E07014137
chr147200132272001478E07014257
chr147200181072001965E07014745
chr147200202472002230E07014959
chr147200259572002653E07015530
chr147200285272003568E07015787
chr147200550572007035E07018440
chr147200708972007605E07020024
chr147200861772008681E07021552
chr147200870072008760E07021635
chr147194041971940470E071-46595
chr147194064871940866E071-46199
chr147194088171940947E071-46118
chr147194100171941127E071-45938
chr147194115671941281E071-45784
chr147194132571941596E071-45469
chr147194166271941723E071-45342
chr147194172871941901E071-45164
chr147194198271942098E071-44967
chr147194212671942177E071-44888
chr147194233871942388E071-44677
chr147194257871943096E071-43969
chr147194527671945657E071-41408
chr147194574671945863E071-41202
chr147194789571948017E071-39048
chr147194811971948238E071-38827
chr147194986971950047E071-37018
chr147195011571950184E071-36881
chr147195044771950662E071-36403
chr147195087371950932E071-36133
chr147195125571951335E071-35730
chr147195144371951537E071-35528
chr147195195471952004E071-35061
chr147195431171954415E071-32650
chr147195459571954655E071-32410
chr147195471571954948E071-32117
chr147195520271955254E071-31811
chr147195536871956207E071-30858
chr147195794871958008E071-29057
chr147195807571958214E071-28851
chr147195862671959010E071-28055
chr147195902971959462E071-27603
chr147195966971959723E071-27342
chr147195984371959909E071-27156
chr147195996271960002E071-27063
chr147196004871960107E071-26958
chr147196418271964247E071-22818
chr147196434871965590E071-21475
chr147198166271982291E071-4774
chr147199639171996515E0719326
chr147199786571997915E07110800
chr147199917171999390E07112106
chr147199952871999609E07112463
chr147199964071999896E07112575
chr147199991071999954E07112845
chr147200011072000447E07113045
chr147200202472002230E07114959
chr147200259572002653E07115530
chr147200285272003568E07115787
chr147200482072004870E07117755
chr147200493872005351E07117873
chr147200550572007035E07118440
chr147200708972007605E07120024
chr147201710972017335E07130044
chr147201760572017667E07130540
chr147201766972017719E07130604
chr147201786572018427E07130800
chr147193827571938940E072-48125
chr147194041971940470E072-46595
chr147194064871940866E072-46199
chr147194088171940947E072-46118
chr147194100171941127E072-45938
chr147194115671941281E072-45784
chr147194132571941596E072-45469
chr147194166271941723E072-45342
chr147194172871941901E072-45164
chr147194198271942098E072-44967
chr147194212671942177E072-44888
chr147194233871942388E072-44677
chr147194257871943096E072-43969
chr147195044771950662E072-36403
chr147195087371950932E072-36133
chr147195125571951335E072-35730
chr147195144371951537E072-35528
chr147195195471952004E072-35061
chr147195404171954108E072-32957
chr147195431171954415E072-32650
chr147195459571954655E072-32410
chr147195471571954948E072-32117
chr147195520271955254E072-31811
chr147195536871956207E072-30858
chr147195794871958008E072-29057
chr147195807571958214E072-28851
chr147195862671959010E072-28055
chr147195902971959462E072-27603
chr147195966971959723E072-27342
chr147196434871965590E072-21475
chr147197611671976175E072-10890
chr147198149871981634E072-5431
chr147198166271982291E072-4774
chr147199639171996515E0729326
chr147199660471997060E0729539
chr147199786571997915E07210800
chr147199838871998483E07211323
chr147199849871998566E07211433
chr147199860771998657E07211542
chr147199917171999390E07212106
chr147199952871999609E07212463
chr147199964071999896E07212575
chr147200259572002653E07215530
chr147200285272003568E07215787
chr147200381972003867E07216754
chr147200394572003995E07216880
chr147200416072004364E07217095
chr147200482072004870E07217755
chr147200493872005351E07217873
chr147200550572007035E07218440
chr147200708972007605E07220024
chr147201760572017667E07230540
chr147201766972017719E07230604
chr147201786572018427E07230800
chr147195144371951537E073-35528
chr147195195471952004E073-35061
chr147195387071953999E073-33066
chr147195404171954108E073-32957
chr147195431171954415E073-32650
chr147195459571954655E073-32410
chr147195471571954948E073-32117
chr147195520271955254E073-31811
chr147195536871956207E073-30858
chr147195794871958008E073-29057
chr147195807571958214E073-28851
chr147195862671959010E073-28055
chr147195902971959462E073-27603
chr147195966971959723E073-27342
chr147195984371959909E073-27156
chr147195996271960002E073-27063
chr147196004871960107E073-26958
chr147198806071988497E073995
chr147199639171996515E0739326
chr147199952871999609E07312463
chr147199964071999896E07312575
chr147199991071999954E07312845
chr147200011072000447E07313045
chr147200285272003568E07315787
chr147200550572007035E07318440
chr147194064871940866E074-46199
chr147194088171940947E074-46118
chr147194100171941127E074-45938
chr147194115671941281E074-45784
chr147194132571941596E074-45469
chr147194166271941723E074-45342
chr147194172871941901E074-45164
chr147194741271947462E074-39603
chr147194789571948017E074-39048
chr147194811971948238E074-38827
chr147194846471948534E074-38531
chr147194872171948790E074-38275
chr147194880471948946E074-38119
chr147194911671949866E074-37199
chr147194986971950047E074-37018
chr147195011571950184E074-36881
chr147195044771950662E074-36403
chr147195087371950932E074-36133
chr147195125571951335E074-35730
chr147195144371951537E074-35528
chr147195431171954415E074-32650
chr147195459571954655E074-32410
chr147195471571954948E074-32117
chr147195520271955254E074-31811
chr147195536871956207E074-30858
chr147195794871958008E074-29057
chr147195807571958214E074-28851
chr147195862671959010E074-28055
chr147195902971959462E074-27603
chr147195966971959723E074-27342
chr147195984371959909E074-27156
chr147195996271960002E074-27063
chr147196004871960107E074-26958
chr147196434871965590E074-21475
chr147199786571997915E07410800
chr147199952871999609E07412463
chr147199964071999896E07412575
chr147199991071999954E07412845
chr147200011072000447E07413045
chr147200259572002653E07415530
chr147200285272003568E07415787
chr147200460172004682E07417536
chr147200482072004870E07417755
chr147200493872005351E07417873
chr147200550572007035E07418440
chr147201633272016703E07429267
chr147201760572017667E07430540
chr147201766972017719E07430604
chr147195459571954655E081-32410
chr147195520271955254E081-31811
chr147195902971959462E081-27603
chr147199952871999609E08112463
chr147199964071999896E08112575
chr147199991071999954E08112845
chr147200708972007605E08120024
chr147194064871940866E082-46199
chr147194088171940947E082-46118
chr147194100171941127E082-45938
chr147194115671941281E082-45784
chr147194132571941596E082-45469
chr147200550572007035E08218440