rs17689550

Homo sapiens
C>T
SLC22A5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0097 (2921/29836,GnomAD)
T=0066 (1949/29118,TOPMED)
T=0092 (459/5008,1000G)
T=0117 (452/3854,ALSPAC)
T=0116 (431/3708,TWINSUK)
chr5:132387373 (GRCh38.p7) (5q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
264 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.132387373C>T
GRCh37.p13 chr 5NC_000005.9:g.131723065C>T
SLC22A5 RefSeqGeneNG_008982.1:g.22665C>T

Gene: SLC22A5, solute carrier family 22 member 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC22A5 transcript variant 1NM_001308122.1:c.N/AIntron Variant
SLC22A5 transcript variant 2NM_003060.3:c.N/AIntron Variant
SLC22A5 transcript variant X4XM_011543590.2:c.N/AIntron Variant
SLC22A5 transcript variant X1XM_017009778.1:c.N/AIntron Variant
SLC22A5 transcript variant X2XR_001742215.1:n.N/AIntron Variant
SLC22A5 transcript variant X6XR_001742216.1:n.N/AIntron Variant
SLC22A5 transcript variant X5XR_427718.2:n.N/AIntron Variant
SLC22A5 transcript variant X3XR_948290.2:n.N/AIntron Variant
SLC22A5 transcript variant X7XR_948291.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.995T=0.005
1000GenomesAmericanSub694C=0.890T=0.110
1000GenomesEast AsianSub1008C=0.963T=0.037
1000GenomesEuropeSub1006C=0.864T=0.136
1000GenomesGlobalStudy-wide5008C=0.908T=0.092
1000GenomesSouth AsianSub978C=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.883T=0.117
The Genome Aggregation DatabaseAfricanSub8666C=0.980T=0.020
The Genome Aggregation DatabaseAmericanSub834C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1620C=0.964T=0.036
The Genome Aggregation DatabaseEuropeSub18414C=0.858T=0.141
The Genome Aggregation DatabaseGlobalStudy-wide29836C=0.902T=0.097
The Genome Aggregation DatabaseOtherSub302C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.933T=0.066
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.884T=0.116
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
rs176895500.00079alcohol dependence20201924

eQTL of rs17689550 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 rs17689550 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 )
chr5131699074131699472E067-23593
chr5131699499131699648E067-23417
chr5131699917131699986E067-23079
chr5131700026131700407E067-22658
chr5131707436131707509E067-15556
chr5131707821131707871E067-15194
chr5131707896131708545E067-14520
chr5131711958131712012E067-11053
chr5131712130131712199E067-10866
chr5131712316131712379E067-10686
chr5131712431131712500E067-10565
chr5131712843131713311E067-9754
chr5131713640131713782E067-9283
chr5131720990131721593E067-1472
chr5131721645131721722E067-1343
chr5131721780131721864E067-1201
chr5131722968131723082E0670
chr5131730845131730885E0677780
chr5131752735131753055E06729670
chr5131753115131753189E06730050
chr5131754698131754811E06731633
chr5131754900131756028E06731835
chr5131756204131756321E06733139
chr5131756356131756990E06733291
chr5131756993131757132E06733928
chr5131757215131757564E06734150
chr5131760381131760492E06737316
chr5131760587131760686E06737522
chr5131761898131765866E06738833
chr5131772775131772924E06749710
chr5131699074131699472E068-23593
chr5131699499131699648E068-23417
chr5131699917131699986E068-23079
chr5131700026131700407E068-22658
chr5131700438131700517E068-22548
chr5131706898131707404E068-15661
chr5131707436131707509E068-15556
chr5131707821131707871E068-15194
chr5131707896131708545E068-14520
chr5131711958131712012E068-11053
chr5131712130131712199E068-10866
chr5131712316131712379E068-10686
chr5131713640131713782E068-9283
chr5131713871131713974E068-9091
chr5131720990131721593E068-1472
chr5131721645131721722E068-1343
chr5131721780131721864E068-1201
chr5131721963131722007E068-1058
chr5131722198131722901E068-164
chr5131730139131730259E0687074
chr5131730457131730660E0687392
chr5131730845131730885E0687780
chr5131750364131751122E06827299
chr5131752138131752311E06829073
chr5131752735131753055E06829670
chr5131753115131753189E06830050
chr5131753200131753261E06830135
chr5131753298131753356E06830233
chr5131754698131754811E06831633
chr5131754900131756028E06831835
chr5131756993131757132E06833928
chr5131760587131760686E06837522
chr5131760734131761891E06837669
chr5131761898131765866E06838833
chr5131770427131770908E06847362
chr5131678514131678928E069-44137
chr5131699074131699472E069-23593
chr5131699499131699648E069-23417
chr5131699917131699986E069-23079
chr5131700026131700407E069-22658
chr5131700438131700517E069-22548
chr5131707821131707871E069-15194
chr5131707896131708545E069-14520
chr5131711958131712012E069-11053
chr5131712130131712199E069-10866
chr5131712316131712379E069-10686
chr5131712431131712500E069-10565
chr5131713640131713782E069-9283
chr5131713871131713974E069-9091
chr5131714349131714540E069-8525
chr5131720990131721593E069-1472
chr5131721645131721722E069-1343
chr5131721780131721864E069-1201
chr5131721963131722007E069-1058
chr5131722198131722901E069-164
chr5131752735131753055E06929670
chr5131753115131753189E06930050
chr5131753200131753261E06930135
chr5131753298131753356E06930233
chr5131754698131754811E06931633
chr5131754900131756028E06931835
chr5131756204131756321E06933139
chr5131756356131756990E06933291
chr5131756993131757132E06933928
chr5131757215131757564E06934150
chr5131759219131759336E06936154
chr5131761898131765866E06938833
chr5131772288131772423E06949223
chr5131772775131772924E06949710
chr5131711958131712012E070-11053
chr5131712130131712199E070-10866
chr5131712316131712379E070-10686
chr5131712431131712500E070-10565
chr5131754698131754811E07031633
chr5131754900131756028E07031835
chr5131756204131756321E07033139
chr5131756356131756990E07033291
chr5131678514131678928E071-44137
chr5131699074131699472E071-23593
chr5131699499131699648E071-23417
chr5131699917131699986E071-23079
chr5131700026131700407E071-22658
chr5131700438131700517E071-22548
chr5131706898131707404E071-15661
chr5131707436131707509E071-15556
chr5131707821131707871E071-15194
chr5131707896131708545E071-14520
chr5131711958131712012E071-11053
chr5131712130131712199E071-10866
chr5131712316131712379E071-10686
chr5131713640131713782E071-9283
chr5131720990131721593E071-1472
chr5131721645131721722E071-1343
chr5131721780131721864E071-1201
chr5131721963131722007E071-1058
chr5131722198131722901E071-164
chr5131730139131730259E0717074
chr5131730457131730660E0717392
chr5131730845131730885E0717780
chr5131750175131750360E07127110
chr5131750364131751122E07127299
chr5131751484131751589E07128419
chr5131752138131752311E07129073
chr5131752735131753055E07129670
chr5131753115131753189E07130050
chr5131753200131753261E07130135
chr5131753298131753356E07130233
chr5131754698131754811E07131633
chr5131754900131756028E07131835
chr5131756204131756321E07133139
chr5131756356131756990E07133291
chr5131756993131757132E07133928
chr5131761898131765866E07138833
chr5131766082131766198E07143017
chr5131766535131766764E07143470
chr5131769752131770342E07146687
chr5131770427131770908E07147362
chr5131772775131772924E07149710
chr5131699074131699472E072-23593
chr5131699499131699648E072-23417
chr5131699917131699986E072-23079
chr5131700026131700407E072-22658
chr5131700438131700517E072-22548
chr5131707821131707871E072-15194
chr5131707896131708545E072-14520
chr5131712316131712379E072-10686
chr5131720990131721593E072-1472
chr5131721645131721722E072-1343
chr5131721780131721864E072-1201
chr5131721963131722007E072-1058
chr5131722198131722901E072-164
chr5131730139131730259E0727074
chr5131730457131730660E0727392
chr5131730845131730885E0727780
chr5131744786131744885E07221721
chr5131745117131745167E07222052
chr5131752138131752311E07229073
chr5131752735131753055E07229670
chr5131753115131753189E07230050
chr5131754698131754811E07231633
chr5131754900131756028E07231835
chr5131756204131756321E07233139
chr5131756356131756990E07233291
chr5131760587131760686E07237522
chr5131760734131761891E07237669
chr5131761898131765866E07238833
chr5131699074131699472E073-23593
chr5131699499131699648E073-23417
chr5131699917131699986E073-23079
chr5131707436131707509E073-15556
chr5131707821131707871E073-15194
chr5131707896131708545E073-14520
chr5131711958131712012E073-11053
chr5131712130131712199E073-10866
chr5131712316131712379E073-10686
chr5131712431131712500E073-10565
chr5131713640131713782E073-9283
chr5131720990131721593E073-1472
chr5131721645131721722E073-1343
chr5131721780131721864E073-1201
chr5131721963131722007E073-1058
chr5131722198131722901E073-164
chr5131723198131724825E073133
chr5131724847131725130E0731782
chr5131745117131745167E07322052
chr5131754698131754811E07331633
chr5131754900131756028E07331835
chr5131756204131756321E07333139
chr5131756356131756990E07333291
chr5131756993131757132E07333928
chr5131757215131757564E07334150
chr5131758280131759109E07335215
chr5131759219131759336E07336154
chr5131761898131765866E07338833
chr5131772775131772924E07349710
chr5131678514131678928E074-44137
chr5131699074131699472E074-23593
chr5131699499131699648E074-23417
chr5131699917131699986E074-23079
chr5131700026131700407E074-22658
chr5131700438131700517E074-22548
chr5131707896131708545E074-14520
chr5131711958131712012E074-11053
chr5131712130131712199E074-10866
chr5131712316131712379E074-10686
chr5131712431131712500E074-10565
chr5131712843131713311E074-9754
chr5131720990131721593E074-1472
chr5131721645131721722E074-1343
chr5131721780131721864E074-1201
chr5131721963131722007E074-1058
chr5131722198131722901E074-164
chr5131730139131730259E0747074
chr5131730457131730660E0747392
chr5131730845131730885E0747780
chr5131745117131745167E07422052
chr5131750364131751122E07427299
chr5131752138131752311E07429073
chr5131752735131753055E07429670
chr5131753115131753189E07430050
chr5131753200131753261E07430135
chr5131753298131753356E07430233
chr5131753738131753813E07430673
chr5131754698131754811E07431633
chr5131754900131756028E07431835
chr5131756204131756321E07433139
chr5131756356131756990E07433291
chr5131756993131757132E07433928
chr5131757215131757564E07434150
chr5131761898131765866E07438833
chr5131766082131766198E07443017
chr5131769752131770342E07446687
chr5131770427131770908E07447362
chr5131771071131771220E07448006
chr5131771667131772000E07448602
chr5131772775131772924E07449710
chr5131706898131707404E081-15661
chr5131707436131707509E081-15556
chr5131707821131707871E081-15194
chr5131711958131712012E081-11053
chr5131712130131712199E081-10866
chr5131712316131712379E081-10686
chr5131712431131712500E081-10565
chr5131712682131712737E081-10328
chr5131712843131713311E081-9754
chr5131713640131713782E081-9283
chr5131713871131713974E081-9091
chr5131706898131707404E082-15661
chr5131707436131707509E082-15556
chr5131707821131707871E082-15194
chr5131711958131712012E082-11053
chr5131712130131712199E082-10866
chr5131713640131713782E082-9283
chr5131713871131713974E082-9091










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5131704738131705946E067-17119
chr5131705991131706458E067-16607
chr5131745833131747975E06722768
chr5131704738131705946E068-17119
chr5131705991131706458E068-16607
chr5131745833131747975E06822768
chr5131704738131705946E069-17119
chr5131705991131706458E069-16607
chr5131745833131747975E06922768
chr5131704738131705946E070-17119
chr5131705991131706458E070-16607
chr5131745833131747975E07022768
chr5131704738131705946E071-17119
chr5131705991131706458E071-16607
chr5131745833131747975E07122768
chr5131704738131705946E072-17119
chr5131705991131706458E072-16607
chr5131745833131747975E07222768
chr5131704738131705946E073-17119
chr5131705991131706458E073-16607
chr5131745833131747975E07322768
chr5131704738131705946E074-17119
chr5131705991131706458E074-16607
chr5131745833131747975E07422768
chr5131704738131705946E081-17119
chr5131705991131706458E081-16607
chr5131704738131705946E082-17119
chr5131705991131706458E082-16607
chr5131745833131747975E08222768