rs17203129

Homo sapiens
G>A
OSBPL1A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0220 (6597/29930,GnomAD)
A=0207 (6026/29118,TOPMED)
A=0203 (1018/5008,1000G)
A=0258 (993/3854,ALSPAC)
A=0244 (903/3708,TWINSUK)
chr18:24212686 (GRCh38.p7) (18q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.24212686G>A
GRCh37.p13 chr 18NC_000018.9:g.21792650G>A
OSBPL1A RefSeqGeneNG_029432.1:g.190184C>T

Gene: OSBPL1A, oxysterol binding protein like 1A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OSBPL1A transcript variant 3NM_001242508.1:c.N/AIntron Variant
OSBPL1A transcript variant 1NM_018030.4:c.N/AIntron Variant
OSBPL1A transcript variant 2NM_080597.3:c.N/AIntron Variant
OSBPL1A transcript variant X2XM_006722380.3:c.N/AIntron Variant
OSBPL1A transcript variant X4XM_006722382.3:c.N/AIntron Variant
OSBPL1A transcript variant X1XM_017025530.1:c.N/AIntron Variant
OSBPL1A transcript variant X3XM_017025531.1:c.N/AIntron Variant
OSBPL1A transcript variant X8XM_017025533.1:c.N/AIntron Variant
OSBPL1A transcript variant X9XM_017025534.1:c.N/AIntron Variant
OSBPL1A transcript variant X7XM_017025532.1:c.N/AGenic Downstream Transcript Variant
OSBPL1A transcript variant X5XR_001753139.1:n.N/AIntron Variant
OSBPL1A transcript variant X6XR_001753140.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.875A=0.125
1000GenomesAmericanSub694G=0.770A=0.230
1000GenomesEast AsianSub1008G=0.863A=0.137
1000GenomesEuropeSub1006G=0.717A=0.283
1000GenomesGlobalStudy-wide5008G=0.797A=0.203
1000GenomesSouth AsianSub978G=0.720A=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.742A=0.258
The Genome Aggregation DatabaseAfricanSub8712G=0.860A=0.140
The Genome Aggregation DatabaseAmericanSub838G=0.800A=0.200
The Genome Aggregation DatabaseEast AsianSub1616G=0.868A=0.132
The Genome Aggregation DatabaseEuropeSub18462G=0.733A=0.266
The Genome Aggregation DatabaseGlobalStudy-wide29930G=0.779A=0.220
The Genome Aggregation DatabaseOtherSub302G=0.740A=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.793A=0.207
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.756A=0.244
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
rs172031295.7E-05alcohol dependence24277619

eQTL of rs17203129 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 rs17203129 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 )
chr182174915121749241E067-43409
chr182174932421749384E067-43266
chr182175668021757026E067-35624
chr182175706321757159E067-35491
chr182175722821757497E067-35153
chr182175758821757703E067-34947
chr182175782921757879E067-34771
chr182175795121758018E067-34632
chr182175969821759988E067-32662
chr182176099921761128E067-31522
chr182176114421761194E067-31456
chr182176140321761460E067-31190
chr182176168621762064E067-30586
chr182176757321767625E067-25025
chr182176769521767739E067-24911
chr182176783921767889E067-24761
chr182176789321767970E067-24680
chr182176821321768263E067-24387
chr182176830521768371E067-24279
chr182176852921768579E067-24071
chr182176874421769475E067-23175
chr182176963721769681E067-22969
chr182176985821769916E067-22734
chr182177002521770248E067-22402
chr182177045521771340E067-21310
chr182177678521776841E067-15809
chr182177688721776956E067-15694
chr182177811721778180E067-14470
chr182177852321778633E067-14017
chr182177867721778840E067-13810
chr182177936821779593E067-13057
chr182177965821779863E067-12787
chr182178108521781283E067-11367
chr182178133421781405E067-11245
chr182178186221781984E067-10666
chr182178206221782148E067-10502
chr182178218421782283E067-10367
chr182178237621782491E067-10159
chr182178287521782939E067-9711
chr182178409721784168E067-8482
chr182178439321784518E067-8132
chr182178946321789563E067-3087
chr182178968221789883E067-2767
chr182179395721794052E0671307
chr182179411921794416E0671469
chr182179444221794521E0671792
chr182179471121794876E0672061
chr182179491321795868E0672263
chr182179589121796212E0673241
chr182179968121799854E0677031
chr182179988721799940E0677237
chr182180002721800202E0677377
chr182180024621800344E0677596
chr182180034821800554E0677698
chr182180082421800874E0678174
chr182180785521807905E06715205
chr182180801121808232E06715361
chr182180825221808901E06715602
chr182180902721809137E06716377
chr182180924521809432E06716595
chr182180957221809628E06716922
chr182181276521813105E06720115
chr182181318021813249E06720530
chr182181814921818203E06725499
chr182181850421818619E06725854
chr182181882621818895E06726176
chr182182360721823693E06730957
chr182182378821823880E06731138
chr182182451821824750E06731868
chr182184041521840489E06747765
chr182184125321841488E06748603
chr182184149321841583E06748843
chr182184158621841781E06748936
chr182184185621841927E06749206
chr182184215121842351E06749501
chr182184247121842521E06749821
chr182175969821759988E068-32662
chr182176014021760333E068-32317
chr182176757321767625E068-25025
chr182176769521767739E068-24911
chr182176783921767889E068-24761
chr182176789321767970E068-24680
chr182176821321768263E068-24387
chr182176830521768371E068-24279
chr182176852921768579E068-24071
chr182176874421769475E068-23175
chr182176963721769681E068-22969
chr182176985821769916E068-22734
chr182177002521770248E068-22402
chr182177045521771340E068-21310
chr182177678521776841E068-15809
chr182177688721776956E068-15694
chr182177811721778180E068-14470
chr182177852321778633E068-14017
chr182177867721778840E068-13810
chr182177936821779593E068-13057
chr182177965821779863E068-12787
chr182178087921781055E068-11595
chr182178108521781283E068-11367
chr182178133421781405E068-11245
chr182178186221781984E068-10666
chr182178206221782148E068-10502
chr182178218421782283E068-10367
chr182178237621782491E068-10159
chr182178317021783234E068-9416
chr182178833221788994E068-3656
chr182178968221789883E068-2767
chr182179395721794052E0681307
chr182179411921794416E0681469
chr182179444221794521E0681792
chr182179471121794876E0682061
chr182179491321795868E0682263
chr182179589121796212E0683241
chr182179968121799854E0687031
chr182179988721799940E0687237
chr182180002721800202E0687377
chr182180024621800344E0687596
chr182180034821800554E0687698
chr182181148621811568E06818836
chr182181161321812650E06818963
chr182181882621818895E06826176
chr182181915821819232E06826508
chr182182245321822573E06829803
chr182182360721823693E06830957
chr182182378821823880E06831138
chr182182973321829811E06837083
chr182182986121829960E06837211
chr182182997621830036E06837326
chr182184125321841488E06848603
chr182184149321841583E06848843
chr182184158621841781E06848936
chr182184185621841927E06849206
chr182184215121842351E06849501
chr182184247121842521E06849821
chr182175668021757026E069-35624
chr182175706321757159E069-35491
chr182175722821757497E069-35153
chr182175758821757703E069-34947
chr182176014021760333E069-32317
chr182176099921761128E069-31522
chr182176114421761194E069-31456
chr182176140321761460E069-31190
chr182176757321767625E069-25025
chr182176769521767739E069-24911
chr182176783921767889E069-24761
chr182176789321767970E069-24680
chr182176821321768263E069-24387
chr182176830521768371E069-24279
chr182176852921768579E069-24071
chr182176874421769475E069-23175
chr182176963721769681E069-22969
chr182176985821769916E069-22734
chr182177002521770248E069-22402
chr182177852321778633E069-14017
chr182177867721778840E069-13810
chr182177936821779593E069-13057
chr182177965821779863E069-12787
chr182178087921781055E069-11595
chr182178108521781283E069-11367
chr182178133421781405E069-11245
chr182178186221781984E069-10666
chr182178206221782148E069-10502
chr182178218421782283E069-10367
chr182178237621782491E069-10159
chr182178287521782939E069-9711
chr182178298321783097E069-9553
chr182178317021783234E069-9416
chr182178409721784168E069-8482
chr182178439321784518E069-8132
chr182178464421784698E069-7952
chr182178833221788994E069-3656
chr182178904921789146E069-3504
chr182178946321789563E069-3087
chr182178968221789883E069-2767
chr182179395721794052E0691307
chr182179411921794416E0691469
chr182179444221794521E0691792
chr182179471121794876E0692061
chr182179491321795868E0692263
chr182179589121796212E0693241
chr182179968121799854E0697031
chr182179988721799940E0697237
chr182180002721800202E0697377
chr182180024621800344E0697596
chr182180034821800554E0697698
chr182180384921803929E06911199
chr182180801121808232E06915361
chr182180825221808901E06915602
chr182181148621811568E06918836
chr182181161321812650E06918963
chr182181276521813105E06920115
chr182181318021813249E06920530
chr182181348321813605E06920833
chr182181850421818619E06925854
chr182181882621818895E06926176
chr182181915821819232E06926508
chr182182360721823693E06930957
chr182182378821823880E06931138
chr182183339421833494E06940744
chr182183350421833691E06940854
chr182184125321841488E06948603
chr182184149321841583E06948843
chr182184158621841781E06948936
chr182184185621841927E06949206
chr182184247121842521E06949821
chr182180002721800202E0707377
chr182180024621800344E0707596
chr182180034821800554E0707698
chr182175668021757026E071-35624
chr182175706321757159E071-35491
chr182175722821757497E071-35153
chr182175758821757703E071-34947
chr182175782921757879E071-34771
chr182175795121758018E071-34632
chr182175969821759988E071-32662
chr182176114421761194E071-31456
chr182176140321761460E071-31190
chr182176168621762064E071-30586
chr182176757321767625E071-25025
chr182176769521767739E071-24911
chr182176783921767889E071-24761
chr182176789321767970E071-24680
chr182176821321768263E071-24387
chr182176830521768371E071-24279
chr182176852921768579E071-24071
chr182176874421769475E071-23175
chr182176963721769681E071-22969
chr182176985821769916E071-22734
chr182177002521770248E071-22402
chr182177045521771340E071-21310
chr182177135321771425E071-21225
chr182177678521776841E071-15809
chr182177688721776956E071-15694
chr182177852321778633E071-14017
chr182177867721778840E071-13810
chr182177936821779593E071-13057
chr182177965821779863E071-12787
chr182178056121780769E071-11881
chr182178077421780865E071-11785
chr182178087921781055E071-11595
chr182178108521781283E071-11367
chr182178133421781405E071-11245
chr182178186221781984E071-10666
chr182178206221782148E071-10502
chr182178218421782283E071-10367
chr182178237621782491E071-10159
chr182178287521782939E071-9711
chr182178298321783097E071-9553
chr182178317021783234E071-9416
chr182178409721784168E071-8482
chr182178439321784518E071-8132
chr182178464421784698E071-7952
chr182178833221788994E071-3656
chr182178904921789146E071-3504
chr182178946321789563E071-3087
chr182178968221789883E071-2767
chr182179395721794052E0711307
chr182179411921794416E0711469
chr182179444221794521E0711792
chr182179471121794876E0712061
chr182179491321795868E0712263
chr182179589121796212E0713241
chr182179968121799854E0717031
chr182179988721799940E0717237
chr182180002721800202E0717377
chr182180024621800344E0717596
chr182180034821800554E0717698
chr182180082421800874E0718174
chr182180384921803929E07111199
chr182180478821804838E07112138
chr182180513621805278E07112486
chr182180801121808232E07115361
chr182180825221808901E07115602
chr182181161321812650E07118963
chr182181276521813105E07120115
chr182181318021813249E07120530
chr182181882621818895E07126176
chr182181915821819232E07126508
chr182182245321822573E07129803
chr182182278121822848E07130131
chr182182973321829811E07137083
chr182182986121829960E07137211
chr182182997621830036E07137326
chr182183317821833228E07140528
chr182183339421833494E07140744
chr182183350421833691E07140854
chr182183811121838161E07145461
chr182184125321841488E07148603
chr182184149321841583E07148843
chr182184158621841781E07148936
chr182184185621841927E07149206
chr182184215121842351E07149501
chr182184247121842521E07149821
chr182175668021757026E072-35624
chr182175706321757159E072-35491
chr182175722821757497E072-35153
chr182175758821757703E072-34947
chr182175782921757879E072-34771
chr182175795121758018E072-34632
chr182176757321767625E072-25025
chr182176769521767739E072-24911
chr182176783921767889E072-24761
chr182176789321767970E072-24680
chr182176874421769475E072-23175
chr182176963721769681E072-22969
chr182176985821769916E072-22734
chr182177002521770248E072-22402
chr182177045521771340E072-21310
chr182177135321771425E072-21225
chr182177198921772054E072-20596
chr182177206221772201E072-20449
chr182177225821772419E072-20231
chr182177678521776841E072-15809
chr182177688721776956E072-15694
chr182177811721778180E072-14470
chr182177852321778633E072-14017
chr182177867721778840E072-13810
chr182177936821779593E072-13057
chr182177965821779863E072-12787
chr182178087921781055E072-11595
chr182178108521781283E072-11367
chr182178133421781405E072-11245
chr182178186221781984E072-10666
chr182178206221782148E072-10502
chr182178218421782283E072-10367
chr182178237621782491E072-10159
chr182178287521782939E072-9711
chr182178298321783097E072-9553
chr182178317021783234E072-9416
chr182178409721784168E072-8482
chr182178946321789563E072-3087
chr182178968221789883E072-2767
chr182179395721794052E0721307
chr182179411921794416E0721469
chr182179444221794521E0721792
chr182179471121794876E0722061
chr182179491321795868E0722263
chr182179589121796212E0723241
chr182179915821799208E0726508
chr182179968121799854E0727031
chr182180002721800202E0727377
chr182180024621800344E0727596
chr182180034821800554E0727698
chr182180082421800874E0728174
chr182180102221801062E0728372
chr182180117621801267E0728526
chr182180131821801368E0728668
chr182180139621801446E0728746
chr182180478821804838E07212138
chr182180513621805278E07212486
chr182180801121808232E07215361
chr182180825221808901E07215602
chr182181161321812650E07218963
chr182181276521813105E07220115
chr182181318021813249E07220530
chr182181478921815233E07222139
chr182182278121822848E07230131
chr182184041521840489E07247765
chr182184158621841781E07248936
chr182184185621841927E07249206
chr182184215121842351E07249501
chr182184247121842521E07249821
chr182175668021757026E073-35624
chr182175706321757159E073-35491
chr182175722821757497E073-35153
chr182175782921757879E073-34771
chr182175795121758018E073-34632
chr182175969821759988E073-32662
chr182176757321767625E073-25025
chr182176769521767739E073-24911
chr182176783921767889E073-24761
chr182176789321767970E073-24680
chr182176963721769681E073-22969
chr182176985821769916E073-22734
chr182177002521770248E073-22402
chr182177045521771340E073-21310
chr182177811721778180E073-14470
chr182177852321778633E073-14017
chr182177867721778840E073-13810
chr182177936821779593E073-13057
chr182177965821779863E073-12787
chr182178186221781984E073-10666
chr182178206221782148E073-10502
chr182178218421782283E073-10367
chr182178237621782491E073-10159
chr182178409721784168E073-8482
chr182178439321784518E073-8132
chr182178464421784698E073-7952
chr182178833221788994E073-3656
chr182178904921789146E073-3504
chr182178946321789563E073-3087
chr182179395721794052E0731307
chr182179411921794416E0731469
chr182179444221794521E0731792
chr182179471121794876E0732061
chr182179491321795868E0732263
chr182179968121799854E0737031
chr182179988721799940E0737237
chr182180002721800202E0737377
chr182180024621800344E0737596
chr182180034821800554E0737698
chr182180082421800874E0738174
chr182181161321812650E07318963
chr182181276521813105E07320115
chr182181318021813249E07320530
chr182181850421818619E07325854
chr182181882621818895E07326176
chr182181915821819232E07326508
chr182181941721819581E07326767
chr182182360721823693E07330957
chr182182378821823880E07331138
chr182184041521840489E07347765
chr182184125321841488E07348603
chr182184149321841583E07348843
chr182184158621841781E07348936
chr182184185621841927E07349206
chr182184215121842351E07349501
chr182184247121842521E07349821
chr182175668021757026E074-35624
chr182175706321757159E074-35491
chr182175722821757497E074-35153
chr182175758821757703E074-34947
chr182175782921757879E074-34771
chr182175969821759988E074-32662
chr182176014021760333E074-32317
chr182176099921761128E074-31522
chr182176114421761194E074-31456
chr182176140321761460E074-31190
chr182176168621762064E074-30586
chr182176757321767625E074-25025
chr182176769521767739E074-24911
chr182176783921767889E074-24761
chr182176789321767970E074-24680
chr182176821321768263E074-24387
chr182176830521768371E074-24279
chr182176852921768579E074-24071
chr182176874421769475E074-23175
chr182176963721769681E074-22969
chr182176985821769916E074-22734
chr182177002521770248E074-22402
chr182177045521771340E074-21310
chr182177198921772054E074-20596
chr182177206221772201E074-20449
chr182177225821772419E074-20231
chr182177748421777726E074-14924
chr182177811721778180E074-14470
chr182177852321778633E074-14017
chr182177867721778840E074-13810
chr182177936821779593E074-13057
chr182177965821779863E074-12787
chr182178108521781283E074-11367
chr182178133421781405E074-11245
chr182178186221781984E074-10666
chr182178206221782148E074-10502
chr182178218421782283E074-10367
chr182178237621782491E074-10159
chr182178287521782939E074-9711
chr182178298321783097E074-9553
chr182178317021783234E074-9416
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