rs10999882

Homo sapiens
C>T
CDH23 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0485 (14518/29912,GnomAD)
T=0494 (14389/29118,TOPMED)
C==0437 (2186/5008,1000G)
T=0452 (1742/3854,ALSPAC)
T=0462 (1713/3708,TWINSUK)
chr10:71566583 (GRCh38.p7) (10q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
408 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.71566583C>T
GRCh37.p13 chr 10NC_000010.10:g.73326340C>T
CDH23 RefSeqGeneNG_008835.1:g.174637C>T

Gene: CDH23, cadherin-related 23(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CDH23 transcript variant 3NM_001171930.1:c.N/AIntron Variant
CDH23 transcript variant 4NM_001171931.1:c.N/AIntron Variant
CDH23 transcript variant 5NM_001171932.1:c.N/AIntron Variant
CDH23 transcript variant 1NM_022124.5:c.N/AIntron Variant
CDH23 transcript variant 2NM_052836.3:c.N/AIntron Variant
CDH23 transcript variant 6NM_001171933.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant 7NM_001171934.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant 8NM_001171935.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant 9NM_001171936.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X1XM_006717940.3:c.N/AIntron Variant
CDH23 transcript variant X4XM_006717942.3:c.N/AIntron Variant
CDH23 transcript variant X2XM_011540039.2:c.N/AIntron Variant
CDH23 transcript variant X5XM_011540042.2:c.N/AIntron Variant
CDH23 transcript variant X6XM_011540043.2:c.N/AIntron Variant
CDH23 transcript variant X8XM_011540044.2:c.N/AIntron Variant
CDH23 transcript variant X9XM_011540045.2:c.N/AIntron Variant
CDH23 transcript variant X10XM_011540046.2:c.N/AIntron Variant
CDH23 transcript variant X14XM_011540048.2:c.N/AIntron Variant
CDH23 transcript variant X15XM_011540049.2:c.N/AIntron Variant
CDH23 transcript variant X17XM_011540051.2:c.N/AIntron Variant
CDH23 transcript variant X3XM_017016499.1:c.N/AIntron Variant
CDH23 transcript variant X7XM_017016500.1:c.N/AIntron Variant
CDH23 transcript variant X11XM_011540047.2:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X18XM_011540052.2:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X12XM_017016501.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X13XM_017016502.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X19XM_017016503.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X20XM_017016504.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X21XM_017016505.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X22XM_017016506.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X23XM_017016507.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X24XM_017016508.1:c.N/AGenic Upstream Transcript Variant
CDH23 transcript variant X16XR_945796.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.426T=0.574
1000GenomesAmericanSub694C=0.550T=0.450
1000GenomesEast AsianSub1008C=0.261T=0.739
1000GenomesEuropeSub1006C=0.529T=0.471
1000GenomesGlobalStudy-wide5008C=0.437T=0.563
1000GenomesSouth AsianSub978C=0.460T=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.548T=0.452
The Genome Aggregation DatabaseAfricanSub8702C=0.448T=0.552
The Genome Aggregation DatabaseAmericanSub834C=0.470T=0.530
The Genome Aggregation DatabaseEast AsianSub1614C=0.257T=0.743
The Genome Aggregation DatabaseEuropeSub18460C=0.521T=0.478
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.485T=0.514
The Genome Aggregation DatabaseOtherSub302C=0.580T=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.505T=0.494
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.538T=0.462
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs109998820.000123alcohol dependence20201924

eQTL of rs10999882 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 rs10999882 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 )
chr107328908473289144E067-37196
chr107332740073327755E0671060
chr107334046373340513E06714123
chr107334081973340898E06714479
chr107334126673341468E06714926
chr107334156773341638E06715227
chr107334173573342082E06715395
chr107334246473342514E06716124
chr107335701973357116E06730679
chr107335726173357356E06730921
chr107335749673359159E06731156
chr107335929573359349E06732955
chr107335947873359547E06733138
chr107335959473359729E06733254
chr107336288473362944E06736544
chr107336300473363181E06736664
chr107336319473363363E06736854
chr107336952173369705E06743181
chr107328681773287310E068-39030
chr107328739173287506E068-38834
chr107328781473288185E068-38155
chr107328819973288466E068-37874
chr107328847673288961E068-37379
chr107328908473289144E068-37196
chr107332740073327755E0681060
chr107332788073327996E0681540
chr107333496473335098E0688624
chr107333519673335295E0688856
chr107333534573336507E0689005
chr107333819873338276E06811858
chr107333846673338516E06812126
chr107334020473340288E06813864
chr107334046373340513E06814123
chr107334081973340898E06814479
chr107334126673341468E06814926
chr107334156773341638E06815227
chr107334173573342082E06815395
chr107334246473342514E06816124
chr107334937773349427E06823037
chr107334955073349896E06823210
chr107334990673350098E06823566
chr107335013373350263E06823793
chr107335597073356020E06829630
chr107335639273356524E06830052
chr107335665173356874E06830311
chr107335701973357116E06830679
chr107335726173357356E06830921
chr107335749673359159E06831156
chr107335929573359349E06832955
chr107335947873359547E06833138
chr107335959473359729E06833254
chr107336854573369378E06842205
chr107336952173369705E06843181
chr107336997873370117E06843638
chr107337014873370390E06843808
chr107337054573370600E06844205
chr107337064873370755E06844308
chr107337080273370900E06844462
chr107337092873370995E06844588
chr107337099873371113E06844658
chr107337113373371221E06844793
chr107337132373371373E06844983
chr107337163973371708E06845299
chr107337175873372124E06845418
chr107328739173287506E069-38834
chr107328781473288185E069-38155
chr107328819973288466E069-37874
chr107328847673288961E069-37379
chr107328908473289144E069-37196
chr107333534573336507E0699005
chr107333776373337813E06911423
chr107333795773338012E06911617
chr107333803573338121E06911695
chr107334020473340288E06913864
chr107334046373340513E06914123
chr107334081973340898E06914479
chr107334126673341468E06914926
chr107334156773341638E06915227
chr107334173573342082E06915395
chr107334246473342514E06916124
chr107334990673350098E06923566
chr107335013373350263E06923793
chr107335039673350584E06924056
chr107335701973357116E06930679
chr107335726173357356E06930921
chr107335749673359159E06931156
chr107335929573359349E06932955
chr107335947873359547E06933138
chr107335959473359729E06933254
chr107336288473362944E06936544
chr107336300473363181E06936664
chr107336319473363363E06936854
chr107336832873368422E06941988
chr107336854573369378E06942205
chr107336952173369705E06943181
chr107336997873370117E06943638
chr107337014873370390E06943808
chr107337054573370600E06944205
chr107337064873370755E06944308
chr107337080273370900E06944462
chr107337092873370995E06944588
chr107337099873371113E06944658
chr107337113373371221E06944793
chr107337132373371373E06944983
chr107337163973371708E06945299
chr107337175873372124E06945418
chr107337284373372923E06946503
chr107337299573373556E06946655
chr107328681773287310E070-39030
chr107328739173287506E070-38834
chr107328781473288185E070-38155
chr107328819973288466E070-37874
chr107328847673288961E070-37379
chr107328908473289144E070-37196
chr107328924873289414E070-36926
chr107328949673289536E070-36804
chr107328957673289979E070-36361
chr107329022773290288E070-36052
chr107329036773290460E070-35880
chr107329063573290851E070-35489
chr107329437673294443E070-31897
chr107329448673294583E070-31757
chr107329465573295239E070-31101
chr107329616373296443E070-29897
chr107329688273297302E070-29038
chr107330339373303479E070-22861
chr107330348273303576E070-22764
chr107330361573303695E070-22645
chr107330372673303819E070-22521
chr107330392973304031E070-22309
chr107330408573304363E070-21977
chr107330438573304459E070-21881
chr107331038673310798E070-15542
chr107331087873311028E070-15312
chr107331104173311091E070-15249
chr107331114973311228E070-15112
chr107331140373311474E070-14866
chr107331159773311731E070-14609
chr107331321773313552E070-12788
chr107331365673313727E070-12613
chr107332740073327755E0701060
chr107332788073327996E0701540
chr107334081973340898E07014479
chr107334126673341468E07014926
chr107334156773341638E07015227
chr107334173573342082E07015395
chr107335639273356524E07030052
chr107335665173356874E07030311
chr107335701973357116E07030679
chr107335726173357356E07030921
chr107335749673359159E07031156
chr107335929573359349E07032955
chr107335947873359547E07033138
chr107335959473359729E07033254
chr107336256873362618E07036228
chr107336271273362783E07036372
chr107336288473362944E07036544
chr107336300473363181E07036664
chr107336319473363363E07036854
chr107336353073363678E07037190
chr107336368473363734E07037344
chr107336385773363927E07037517
chr107336398273364032E07037642
chr107336407473364133E07037734
chr107336438773364767E07038047
chr107336854573369378E07042205
chr107337099873371113E07044658
chr107337113373371221E07044793
chr107328781473288185E071-38155
chr107328819973288466E071-37874
chr107328847673288961E071-37379
chr107332740073327755E0711060
chr107332971773330263E0713377
chr107333027173330445E0713931
chr107333046573330559E0714125
chr107333059973330703E0714259
chr107333073173330781E0714391
chr107333434273334467E0718002
chr107333467773334742E0718337
chr107333496473335098E0718624
chr107333519673335295E0718856
chr107333534573336507E0719005
chr107333881473338864E07112474
chr107333960973339659E07113269
chr107334020473340288E07113864
chr107334046373340513E07114123
chr107334081973340898E07114479
chr107334126673341468E07114926
chr107334156773341638E07115227
chr107334173573342082E07115395
chr107334246473342514E07116124
chr107334323873343338E07116898
chr107334955073349896E07123210
chr107334990673350098E07123566
chr107335013373350263E07123793
chr107335039673350584E07124056
chr107335639273356524E07130052
chr107335665173356874E07130311
chr107335701973357116E07130679
chr107335929573359349E07132955
chr107335947873359547E07133138
chr107335959473359729E07133254
chr107336256873362618E07136228
chr107336271273362783E07136372
chr107336288473362944E07136544
chr107336300473363181E07136664
chr107336319473363363E07136854
chr107336353073363678E07137190
chr107336609073366285E07139750
chr107336633073366419E07139990
chr107336810673368228E07141766
chr107336832873368422E07141988
chr107336854573369378E07142205
chr107336952173369705E07143181
chr107336997873370117E07143638
chr107337014873370390E07143808
chr107337054573370600E07144205
chr107337064873370755E07144308
chr107337080273370900E07144462
chr107337092873370995E07144588
chr107337099873371113E07144658
chr107337113373371221E07144793
chr107337132373371373E07144983
chr107337163973371708E07145299
chr107337175873372124E07145418
chr107337221573372278E07145875
chr107337241373372527E07146073
chr107337284373372923E07146503
chr107337299573373556E07146655
chr107337357173373672E07147231
chr107337382373374037E07147483
chr107337406773374202E07147727
chr107337555373375603E07149213
chr107328681773287310E072-39030
chr107328739173287506E072-38834
chr107328781473288185E072-38155
chr107328819973288466E072-37874
chr107328847673288961E072-37379
chr107333496473335098E0728624
chr107333519673335295E0728856
chr107333534573336507E0729005
chr107333960973339659E07213269
chr107334020473340288E07213864
chr107334046373340513E07214123
chr107334081973340898E07214479
chr107334126673341468E07214926
chr107334156773341638E07215227
chr107334173573342082E07215395
chr107334246473342514E07216124
chr107334955073349896E07223210
chr107334990673350098E07223566
chr107335013373350263E07223793
chr107335726173357356E07230921
chr107335749673359159E07231156
chr107335929573359349E07232955
chr107335947873359547E07233138
chr107335959473359729E07233254
chr107336832873368422E07241988
chr107336854573369378E07242205
chr107336952173369705E07243181
chr107336997873370117E07243638
chr107337014873370390E07243808
chr107337054573370600E07244205
chr107337064873370755E07244308
chr107337080273370900E07244462
chr107337092873370995E07244588
chr107337099873371113E07244658
chr107337113373371221E07244793
chr107337132373371373E07244983
chr107337163973371708E07245299
chr107337175873372124E07245418
chr107337382373374037E07247483
chr107337406773374202E07247727
chr107328681773287310E073-39030
chr107328739173287506E073-38834
chr107328924873289414E073-36926
chr107333534573336507E0739005
chr107334046373340513E07314123
chr107334081973340898E07314479
chr107334173573342082E07315395
chr107334246473342514E07316124
chr107334866373348754E07322323
chr107334937773349427E07323037
chr107335701973357116E07330679
chr107335726173357356E07330921
chr107335749673359159E07331156
chr107335929573359349E07332955
chr107335947873359547E07333138
chr107335959473359729E07333254
chr107336832873368422E07341988
chr107336854573369378E07342205
chr107336952173369705E07343181
chr107336997873370117E07343638
chr107337014873370390E07343808
chr107337054573370600E07344205
chr107337064873370755E07344308
chr107337080273370900E07344462
chr107337092873370995E07344588
chr107337099873371113E07344658
chr107337113373371221E07344793
chr107337132373371373E07344983
chr107337163973371708E07345299
chr107337175873372124E07345418
chr107328681773287310E074-39030
chr107332716273327244E074822
chr107332740073327755E0741060
chr107333467773334742E0748337
chr107333496473335098E0748624
chr107333519673335295E0748856
chr107333534573336507E0749005
chr107333881473338864E07412474
chr107333960973339659E07413269
chr107334020473340288E07413864
chr107334046373340513E07414123
chr107334081973340898E07414479
chr107334126673341468E07414926
chr107334156773341638E07415227
chr107334173573342082E07415395
chr107334246473342514E07416124
chr107334937773349427E07423037
chr107334955073349896E07423210
chr107334990673350098E07423566
chr107335013373350263E07423793
chr107335039673350584E07424056
chr107335639273356524E07430052
chr107335665173356874E07430311
chr107335701973357116E07430679
chr107335726173357356E07430921
chr107335749673359159E07431156
chr107335929573359349E07432955
chr107335947873359547E07433138
chr107335959473359729E07433254
chr107336256873362618E07436228
chr107336271273362783E07436372
chr107336288473362944E07436544
chr107336810673368228E07441766
chr107336854573369378E07442205
chr107336952173369705E07443181
chr107336997873370117E07443638
chr107337014873370390E07443808
chr107337054573370600E07444205
chr107337064873370755E07444308
chr107337080273370900E07444462
chr107337092873370995E07444588
chr107337099873371113E07444658
chr107337113373371221E07444793
chr107337132373371373E07444983
chr107337163973371708E07445299
chr107337175873372124E07445418
chr107337299573373556E07446655
chr107337357173373672E07447231
chr107337382373374037E07447483
chr107337432773374426E07447987
chr107337444673374500E07448106
chr107337450773374591E07448167
chr107327676973276996E081-49344
chr107327704573277135E081-49205
chr107327723773277291E081-49049
chr107327763773277866E081-48474
chr107328648673286646E081-39694
chr107328666573286738E081-39602
chr107328681773287310E081-39030
chr107328739173287506E081-38834
chr107328781473288185E081-38155
chr107328819973288466E081-37874
chr107328847673288961E081-37379
chr107328908473289144E081-37196
chr107328924873289414E081-36926
chr107328949673289536E081-36804
chr107328957673289979E081-36361
chr107329022773290288E081-36052
chr107329036773290460E081-35880
chr107329143473291605E081-34735
chr107329164173292202E081-34138
chr107329223473292341E081-33999
chr107331087873311028E081-15312
chr107331104173311091E081-15249
chr107331114973311228E081-15112
chr107336854573369378E08142205
chr107327676973276996E082-49344
chr107327704573277135E082-49205
chr107327723773277291E082-49049
chr107327763773277866E082-48474
chr107327809073278142E082-48198
chr107328781473288185E082-38155
chr107328819973288466E082-37874
chr107328847673288961E082-37379
chr107328908473289144E082-37196
chr107328924873289414E082-36926
chr107328949673289536E082-36804
chr107328957673289979E082-36361
chr107329022773290288E082-36052
chr107329036773290460E082-35880
chr107329164173292202E082-34138
chr107329223473292341E082-33999
chr107329245173292502E082-33838
chr107329286373292935E082-33405
chr107329395373293993E082-32347
chr107329405073294189E082-32151
chr107329437673294443E082-31897
chr107329448673294583E082-31757
chr107329465573295239E082-31101
chr107331038673310798E082-15542
chr107331087873311028E082-15312
chr107332052273320629E082-5711
chr107332098373321218E082-5122
chr107336832873368422E08241988
chr107336854573369378E08242205