rs10999845

Homo sapiens
A>G
CDH23 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0162 (4875/29940,GnomAD)
G=0162 (4733/29118,TOPMED)
G=0145 (727/5008,1000G)
G=0183 (704/3854,ALSPAC)
G=0202 (749/3708,TWINSUK)
chr10:71480604 (GRCh38.p7) (10q22.1)
ND
GWASdb2
2   publication(s)
See rs on genome
267 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.71480604A>G
GRCh37.p13 chr 10NC_000010.10:g.73240361A>G
CDH23 RefSeqGeneNG_008835.1:g.88658A>G

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 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 X10XM_011540046.2:c.N/AGenic Upstream Transcript 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
1000GenomesAfricanSub1322A=0.883G=0.117
1000GenomesAmericanSub694A=0.820G=0.180
1000GenomesEast AsianSub1008A=0.826G=0.174
1000GenomesEuropeSub1006A=0.797G=0.203
1000GenomesGlobalStudy-wide5008A=0.855G=0.145
1000GenomesSouth AsianSub978A=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.817G=0.183
The Genome Aggregation DatabaseAfricanSub8712A=0.870G=0.130
The Genome Aggregation DatabaseAmericanSub838A=0.860G=0.140
The Genome Aggregation DatabaseEast AsianSub1618A=0.792G=0.208
The Genome Aggregation DatabaseEuropeSub18470A=0.825G=0.174
The Genome Aggregation DatabaseGlobalStudy-wide29940A=0.837G=0.162
The Genome Aggregation DatabaseOtherSub302A=0.810G=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.837G=0.162
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.798G=0.202
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
22719919Glutamate and synaptic plasticity systems and smoking behavior: results from a genetic association study.dos Santos VAPLoS One

P-Value

SNP ID p-value Traits Study
rs109998455.81E-05nicotine smoking19268276

eQTL of rs10999845 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 rs10999845 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 )
chr107319108673191136E067-49225
chr107319117973191315E067-49046
chr107319138673191959E067-48402
chr107319532673195674E067-44687
chr107319568673195804E067-44557
chr107319583273195904E067-44457
chr107319592173196426E067-43935
chr107319642973196973E067-43388
chr107323227373232569E067-7792
chr107323330773233385E067-6976
chr107323341173233455E067-6906
chr107323361073234051E067-6310
chr107323406073234209E067-6152
chr107328908473289144E06748723
chr107319117973191315E068-49046
chr107319138673191959E068-48402
chr107323178573231901E068-8460
chr107323227373232569E068-7792
chr107323361073234051E068-6310
chr107323406073234209E068-6152
chr107323578073235891E068-4470
chr107323592973236010E068-4351
chr107323603873236966E068-3395
chr107327358073273661E06833219
chr107327393373274136E06833572
chr107328681773287310E06846456
chr107328739173287506E06847030
chr107328781473288185E06847453
chr107328819973288466E06847838
chr107328847673288961E06848115
chr107328908473289144E06848723
chr107323361073234051E069-6310
chr107323406073234209E069-6152
chr107323448373234562E069-5799
chr107323464573234754E069-5607
chr107323603873236966E069-3395
chr107328739173287506E06947030
chr107328781473288185E06947453
chr107328819973288466E06947838
chr107328847673288961E06948115
chr107328908473289144E06948723
chr107319427473194776E070-45585
chr107319512073195216E070-45145
chr107319532673195674E070-44687
chr107319568673195804E070-44557
chr107319583273195904E070-44457
chr107319592173196426E070-43935
chr107319642973196973E070-43388
chr107319708873197138E070-43223
chr107319720273197427E070-42934
chr107319997873200029E070-40332
chr107320009273200232E070-40129
chr107320031973200359E070-40002
chr107320043173200521E070-39840
chr107320052273200682E070-39679
chr107323341173233455E070-6906
chr107323361073234051E070-6310
chr107323406073234209E070-6152
chr107327100973271063E07030648
chr107327119773271252E07030836
chr107327157573271678E07031214
chr107327193573271985E07031574
chr107327200373272123E07031642
chr107327215973272417E07031798
chr107327393373274136E07033572
chr107327418773274877E07033826
chr107328681773287310E07046456
chr107328739173287506E07047030
chr107328781473288185E07047453
chr107328819973288466E07047838
chr107328847673288961E07048115
chr107328908473289144E07048723
chr107328924873289414E07048887
chr107328949673289536E07049135
chr107328957673289979E07049215
chr107329022773290288E07049866
chr107319083473190884E071-49477
chr107319093973190999E071-49362
chr107319108673191136E071-49225
chr107319117973191315E071-49046
chr107319138673191959E071-48402
chr107319532673195674E071-44687
chr107319568673195804E071-44557
chr107319583273195904E071-44457
chr107323227373232569E071-7792
chr107323275873233134E071-7227
chr107323330773233385E071-6976
chr107323341173233455E071-6906
chr107323361073234051E071-6310
chr107323406073234209E071-6152
chr107323448373234562E071-5799
chr107323464573234754E071-5607
chr107323488973235679E071-4682
chr107323578073235891E071-4470
chr107323592973236010E071-4351
chr107323603873236966E071-3395
chr107328781473288185E07147453
chr107328819973288466E07147838
chr107328847673288961E07148115
chr107319532673195674E072-44687
chr107319568673195804E072-44557
chr107319583273195904E072-44457
chr107323227373232569E072-7792
chr107323406073234209E072-6152
chr107323578073235891E072-4470
chr107323592973236010E072-4351
chr107323603873236966E072-3395
chr107328681773287310E07246456
chr107328739173287506E07247030
chr107328781473288185E07247453
chr107328819973288466E07247838
chr107328847673288961E07248115
chr107319117973191315E073-49046
chr107319138673191959E073-48402
chr107319532673195674E073-44687
chr107319568673195804E073-44557
chr107319583273195904E073-44457
chr107323227373232569E073-7792
chr107323275873233134E073-7227
chr107323330773233385E073-6976
chr107323341173233455E073-6906
chr107323361073234051E073-6310
chr107323406073234209E073-6152
chr107323448373234562E073-5799
chr107323464573234754E073-5607
chr107323488973235679E073-4682
chr107327193573271985E07331574
chr107327200373272123E07331642
chr107327215973272417E07331798
chr107328681773287310E07346456
chr107328739173287506E07347030
chr107328924873289414E07348887
chr107319532673195674E074-44687
chr107319568673195804E074-44557
chr107323227373232569E074-7792
chr107323275873233134E074-7227
chr107323330773233385E074-6976
chr107323341173233455E074-6906
chr107323361073234051E074-6310
chr107323406073234209E074-6152
chr107323448373234562E074-5799
chr107323464573234754E074-5607
chr107323488973235679E074-4682
chr107323578073235891E074-4470
chr107323592973236010E074-4351
chr107323603873236966E074-3395
chr107328681773287310E07446456
chr107319083473190884E081-49477
chr107319093973190999E081-49362
chr107319108673191136E081-49225
chr107319117973191315E081-49046
chr107319138673191959E081-48402
chr107319243973192489E081-47872
chr107319253473192589E081-47772
chr107319280373192996E081-47365
chr107319302673193144E081-47217
chr107319427473194776E081-45585
chr107319512073195216E081-45145
chr107319532673195674E081-44687
chr107319568673195804E081-44557
chr107319583273195904E081-44457
chr107319592173196426E081-43935
chr107319642973196973E081-43388
chr107319708873197138E081-43223
chr107319720273197427E081-42934
chr107319752173197781E081-42580
chr107319824373198283E081-42078
chr107322012173220237E081-20124
chr107322045373220548E081-19813
chr107322061573220665E081-19696
chr107322069373220765E081-19596
chr107322088773220947E081-19414
chr107322141973221486E081-18875
chr107322184273221913E081-18448
chr107322192273221976E081-18385
chr107322200473222262E081-18099
chr107322285773223245E081-17116
chr107322646673226557E081-13804
chr107322657873226672E081-13689
chr107322671173226847E081-13514
chr107322688573226998E081-13363
chr107322706573227148E081-13213
chr107322781473227864E081-12497
chr107322813973228179E081-12182
chr107322829373228355E081-12006
chr107322838873228504E081-11857
chr107322859873228677E081-11684
chr107323072173230771E081-9590
chr107323081073231125E081-9236
chr107323118773231265E081-9096
chr107323137073231420E081-8941
chr107323146773231570E081-8791
chr107323159773231693E081-8668
chr107323178573231901E081-8460
chr107323341173233455E081-6906
chr107323361073234051E081-6310
chr107323406073234209E081-6152
chr107323448373234562E081-5799
chr107323464573234754E081-5607
chr107323488973235679E081-4682
chr107323578073235891E081-4470
chr107323592973236010E081-4351
chr107327157573271678E08131214
chr107327193573271985E08131574
chr107327200373272123E08131642
chr107327418773274877E08133826
chr107327508673275140E08134725
chr107327539573275543E08135034
chr107327676973276996E08136408
chr107327704573277135E08136684
chr107327723773277291E08136876
chr107327763773277866E08137276
chr107328648673286646E08146125
chr107328666573286738E08146304
chr107328681773287310E08146456
chr107328739173287506E08147030
chr107328781473288185E08147453
chr107328819973288466E08147838
chr107328847673288961E08148115
chr107328908473289144E08148723
chr107328924873289414E08148887
chr107328949673289536E08149135
chr107328957673289979E08149215
chr107329022773290288E08149866
chr107319138673191959E082-48402
chr107319427473194776E082-45585
chr107319512073195216E082-45145
chr107319532673195674E082-44687
chr107319568673195804E082-44557
chr107319583273195904E082-44457
chr107319592173196426E082-43935
chr107319642973196973E082-43388
chr107319708873197138E082-43223
chr107319720273197427E082-42934
chr107322184273221913E082-18448
chr107322192273221976E082-18385
chr107322200473222262E082-18099
chr107322285773223245E082-17116
chr107323341173233455E082-6906
chr107323361073234051E082-6310
chr107323406073234209E082-6152
chr107323448373234562E082-5799
chr107323464573234754E082-5607
chr107323488973235679E082-4682
chr107323578073235891E082-4470
chr107327157573271678E08231214
chr107327193573271985E08231574
chr107327200373272123E08231642
chr107327215973272417E08231798
chr107327242373273002E08232062
chr107327358073273661E08233219
chr107327383373273912E08233472
chr107327393373274136E08233572
chr107327418773274877E08233826
chr107327676973276996E08236408
chr107327704573277135E08236684
chr107327723773277291E08236876
chr107327763773277866E08237276
chr107327809073278142E08237729
chr107328781473288185E08247453
chr107328819973288466E08247838
chr107328847673288961E08248115
chr107328908473289144E08248723
chr107328924873289414E08248887
chr107328949673289536E08249135
chr107328957673289979E08249215
chr107329022773290288E08249866