rs10241485

Homo sapiens
A>G
AUTS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0278 (8318/29834,GnomAD)
A==0266 (7762/29118,TOPMED)
A==0269 (1347/5008,1000G)
A==0299 (1151/3854,ALSPAC)
A==0293 (1087/3708,TWINSUK)
chr7:69742332 (GRCh38.p7) (7q11.22)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.69742332A>G
GRCh37.p13 chr 7NC_000007.13:g.69207318A>G
AUTS2 RefSeqGeneNG_034133.1:g.148414A>G

Gene: AUTS2, autism susceptibility candidate 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AUTS2 transcript variant 2NM_001127231.2:c.N/AIntron Variant
AUTS2 transcript variant 3NM_001127232.2:c.N/AIntron Variant
AUTS2 transcript variant 1NM_015570.3:c.N/AIntron Variant
AUTS2 transcript variant X1XM_011516010.2:c.N/AIntron Variant
AUTS2 transcript variant X2XM_011516011.2:c.N/AIntron Variant
AUTS2 transcript variant X3XM_011516012.2:c.N/AIntron Variant
AUTS2 transcript variant X4XM_011516013.2:c.N/AIntron Variant
AUTS2 transcript variant X5XM_011516014.2:c.N/AIntron Variant
AUTS2 transcript variant X9XM_017011951.1:c.N/AIntron Variant
AUTS2 transcript variant X8XM_005250257.2:c.N/AGenic Upstream Transcript Variant
AUTS2 transcript variant X6XM_011516017.2:c.N/AGenic Upstream Transcript Variant
AUTS2 transcript variant X7XM_011516018.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.250G=0.750
1000GenomesAmericanSub694A=0.300G=0.700
1000GenomesEast AsianSub1008A=0.221G=0.779
1000GenomesEuropeSub1006A=0.283G=0.717
1000GenomesGlobalStudy-wide5008A=0.269G=0.731
1000GenomesSouth AsianSub978A=0.310G=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.299G=0.701
The Genome Aggregation DatabaseAfricanSub8698A=0.239G=0.761
The Genome Aggregation DatabaseAmericanSub838A=0.310G=0.690
The Genome Aggregation DatabaseEast AsianSub1600A=0.211G=0.789
The Genome Aggregation DatabaseEuropeSub18396A=0.300G=0.699
The Genome Aggregation DatabaseGlobalStudy-wide29834A=0.278G=0.721
The Genome Aggregation DatabaseOtherSub302A=0.360G=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.266G=0.733
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.293G=0.707
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs102414850.000862nicotine smoking19268276

eQTL of rs10241485 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 rs10241485 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 )
chr76916637569166533E067-40785
chr76916676069166810E067-40508
chr76916693469166984E067-40334
chr76916709769167137E067-40181
chr76916757169167754E067-39564
chr76916793469167984E067-39334
chr76916809669168146E067-39172
chr76916825569168382E067-38936
chr76916842669168529E067-38789
chr76917285269172932E067-34386
chr76917342369173654E067-33664
chr76917366869173727E067-33591
chr76917374969173802E067-33516
chr76917389969174244E067-33074
chr76917428269174422E067-32896
chr76917442469174486E067-32832
chr76917453569174652E067-32666
chr76918469769185177E067-22141
chr76920333969204021E067-3297
chr76920430269204657E067-2661
chr76920467169205470E067-1848
chr76922095269221125E06713634
chr76922114369221557E06713825
chr76922157569221708E06714257
chr76922180169221851E06714483
chr76922211169222196E06714793
chr76922220569222288E06714887
chr76922266869222731E06715350
chr76922277669222927E06715458
chr76923430669234584E06726988
chr76923468969234739E06727371
chr76923474769234807E06727429
chr76924539569245776E06738077
chr76924589769245947E06738579
chr76924599569246049E06738677
chr76924615569246205E06738837
chr76924637769246831E06739059
chr76924795869248925E06740640
chr76924901069249050E06741692
chr76924929169249464E06741973
chr76916082469161002E068-46316
chr76916104769161367E068-45951
chr76916138369161675E068-45643
chr76916693469166984E068-40334
chr76916709769167137E068-40181
chr76916757169167754E068-39564
chr76916793469167984E068-39334
chr76916809669168146E068-39172
chr76916825569168382E068-38936
chr76916842669168529E068-38789
chr76917285269172932E068-34386
chr76917342369173654E068-33664
chr76917366869173727E068-33591
chr76917374969173802E068-33516
chr76917389969174244E068-33074
chr76917428269174422E068-32896
chr76920333969204021E068-3297
chr76920430269204657E068-2661
chr76920467169205470E068-1848
chr76921421169214342E0686893
chr76921436769214759E0687049
chr76921477669214878E0687458
chr76921489569215081E0687577
chr76921571269215805E0688394
chr76922023069220305E06812912
chr76922095269221125E06813634
chr76922114369221557E06813825
chr76922157569221708E06814257
chr76922180169221851E06814483
chr76922211169222196E06814793
chr76922220569222288E06814887
chr76922266869222731E06815350
chr76922277669222927E06815458
chr76922296669223438E06815648
chr76923400969234261E06826691
chr76923430669234584E06826988
chr76923468969234739E06827371
chr76923474769234807E06827429
chr76924589769245947E06838579
chr76924599569246049E06838677
chr76924615569246205E06838837
chr76924795869248925E06840640
chr76924901069249050E06841692
chr76924929169249464E06841973
chr76925272369252773E06845405
chr76925284769253078E06845529
chr76925313769253448E06845819
chr76925357969253652E06846261
chr76925365369253703E06846335
chr76925581069255891E06848492
chr76925597869256099E06848660
chr76925615269256331E06848834
chr76925644469256498E06849126
chr76925680269256978E06849484
chr76916676069166810E069-40508
chr76916693469166984E069-40334
chr76916709769167137E069-40181
chr76916757169167754E069-39564
chr76916793469167984E069-39334
chr76916809669168146E069-39172
chr76916825569168382E069-38936
chr76916842669168529E069-38789
chr76916864269168722E069-38596
chr76917285269172932E069-34386
chr76917342369173654E069-33664
chr76917366869173727E069-33591
chr76917374969173802E069-33516
chr76917389969174244E069-33074
chr76917428269174422E069-32896
chr76917442469174486E069-32832
chr76917453569174652E069-32666
chr76918469769185177E069-22141
chr76919705869197575E069-9743
chr76919758769197683E069-9635
chr76920333969204021E069-3297
chr76920430269204657E069-2661
chr76920467169205470E069-1848
chr76922095269221125E06913634
chr76922114369221557E06913825
chr76922157569221708E06914257
chr76922180169221851E06914483
chr76923400969234261E06926691
chr76923430669234584E06926988
chr76923468969234739E06927371
chr76923474769234807E06927429
chr76924589769245947E06938579
chr76924599569246049E06938677
chr76924615569246205E06938837
chr76924637769246831E06939059
chr76924685469247039E06939536
chr76924795869248925E06940640
chr76924901069249050E06941692
chr76924929169249464E06941973
chr76925272369252773E06945405
chr76925284769253078E06945529
chr76925313769253448E06945819
chr76925357969253652E06946261
chr76925581069255891E06948492
chr76925597869256099E06948660
chr76925615269256331E06948834
chr76925644469256498E06949126
chr76925680269256978E06949484
chr76916104769161367E070-45951
chr76916138369161675E070-45643
chr76916180469161916E070-45402
chr76916210269162271E070-45047
chr76916233069162384E070-44934
chr76916546569165576E070-41742
chr76916578769165988E070-41330
chr76916709769167137E070-40181
chr76916793469167984E070-39334
chr76916809669168146E070-39172
chr76916825569168382E070-38936
chr76916842669168529E070-38789
chr76916864269168722E070-38596
chr76917342369173654E070-33664
chr76917366869173727E070-33591
chr76917374969173802E070-33516
chr76917389969174244E070-33074
chr76917428269174422E070-32896
chr76917442469174486E070-32832
chr76917453569174652E070-32666
chr76917476669174812E070-32506
chr76917517869175325E070-31993
chr76917543969175594E070-31724
chr76917564969175854E070-31464
chr76917594069176240E070-31078
chr76918229069182523E070-24795
chr76918253669182611E070-24707
chr76918275469182804E070-24514
chr76918285669182900E070-24418
chr76918440769184568E070-22750
chr76918469769185177E070-22141
chr76918587969185929E070-21389
chr76918599469186044E070-21274
chr76918625869186355E070-20963
chr76918663269186673E070-20645
chr76918693869186988E070-20330
chr76918790169188242E070-19076
chr76919607969196129E070-11189
chr76919616769196217E070-11101
chr76919705869197575E070-9743
chr76919758769197683E070-9635
chr76919771969197799E070-9519
chr76919796569198072E070-9246
chr76919814069198238E070-9080
chr76919867069198720E070-8598
chr76919873869198788E070-8530
chr76920067969200818E070-6500
chr76920134569201395E070-5923
chr76920141169201461E070-5857
chr76920161769201687E070-5631
chr76920176469201814E070-5504
chr76920200669202056E070-5262
chr76920240369202486E070-4832
chr76920269469202744E070-4574
chr76920284669202967E070-4351
chr76920299069203034E070-4284
chr76920317569203227E070-4091
chr76920333969204021E070-3297
chr76920430269204657E070-2661
chr76920467169205470E070-1848
chr76920588969205939E070-1379
chr76921351269213615E0706194
chr76921364069213764E0706322
chr76921393569213994E0706617
chr76921421169214342E0706893
chr76921436769214759E0707049
chr76921477669214878E0707458
chr76921489569215081E0707577
chr76921666669216913E0709348
chr76921717969217251E0709861
chr76921725669217361E0709938
chr76921740069217450E07010082
chr76921763869217693E07010320
chr76921800669218086E07010688
chr76921814269218382E07010824
chr76922023069220305E07012912
chr76922058469220699E07013266
chr76922070469220798E07013386
chr76922095269221125E07013634
chr76922114369221557E07013825
chr76922157569221708E07014257
chr76922180169221851E07014483
chr76922211169222196E07014793
chr76922220569222288E07014887
chr76922266869222731E07015350
chr76922277669222927E07015458
chr76922296669223438E07015648
chr76922617569226346E07018857
chr76922642669226480E07019108
chr76922658869226752E07019270
chr76923400969234261E07026691
chr76923430669234584E07026988
chr76923468969234739E07027371
chr76923474769234807E07027429
chr76923501469235064E07027696
chr76923519269235284E07027874
chr76923547269235512E07028154
chr76923568969235741E07028371
chr76923802469238417E07030706
chr76923842969238547E07031111
chr76923856669239126E07031248
chr76924539569245776E07038077
chr76924589769245947E07038579
chr76924599569246049E07038677
chr76924615569246205E07038837
chr76924637769246831E07039059
chr76924685469247039E07039536
chr76924713869247188E07039820
chr76924727769247327E07039959
chr76924738769247437E07040069
chr76924748969247568E07040171
chr76924768869247928E07040370
chr76924795869248925E07040640
chr76924901069249050E07041692
chr76924929169249464E07041973
chr76925029669250854E07042978
chr76925272369252773E07045405
chr76925284769253078E07045529
chr76925313769253448E07045819
chr76925357969253652E07046261
chr76925365369253703E07046335
chr76925581069255891E07048492
chr76925597869256099E07048660
chr76925615269256331E07048834
chr76925644469256498E07049126
chr76925680269256978E07049484
chr76916637569166533E071-40785
chr76916676069166810E071-40508
chr76916693469166984E071-40334
chr76916709769167137E071-40181
chr76916757169167754E071-39564
chr76916793469167984E071-39334
chr76916809669168146E071-39172
chr76916825569168382E071-38936
chr76916842669168529E071-38789
chr76916864269168722E071-38596
chr76916900369169053E071-38265
chr76916910269169152E071-38166
chr76916915369169249E071-38069
chr76917342369173654E071-33664
chr76917366869173727E071-33591
chr76917374969173802E071-33516
chr76917389969174244E071-33074
chr76917428269174422E071-32896
chr76917442469174486E071-32832
chr76917453569174652E071-32666
chr76917476669174812E071-32506
chr76917543969175594E071-31724
chr76917564969175854E071-31464
chr76917594069176240E071-31078
chr76919705869197575E071-9743
chr76920333969204021E071-3297
chr76920430269204657E071-2661
chr76920467169205470E071-1848
chr76921351269213615E0716194
chr76921364069213764E0716322
chr76922095269221125E07113634
chr76922114369221557E07113825
chr76922157569221708E07114257
chr76922180169221851E07114483
chr76922211169222196E07114793
chr76922266869222731E07115350
chr76922277669222927E07115458
chr76922296669223438E07115648
chr76923400969234261E07126691
chr76923430669234584E07126988
chr76923842969238547E07131111
chr76923856669239126E07131248
chr76924615569246205E07138837
chr76924637769246831E07139059
chr76924768869247928E07140370
chr76924795869248925E07140640
chr76924901069249050E07141692
chr76924929169249464E07141973
chr76925284769253078E07145529
chr76925313769253448E07145819
chr76925357969253652E07146261
chr76925365369253703E07146335
chr76925384369253959E07146525
chr76925402369254231E07146705
chr76925431169254389E07146993
chr76925452269254674E07147204
chr76925472469254803E07147406
chr76925485469255024E07147536
chr76925532269255372E07148004
chr76925581069255891E07148492
chr76925597869256099E07148660
chr76925615269256331E07148834
chr76925644469256498E07149126
chr76925680269256978E07149484
chr76916637569166533E072-40785
chr76916676069166810E072-40508
chr76916693469166984E072-40334
chr76916709769167137E072-40181
chr76916757169167754E072-39564
chr76916793469167984E072-39334
chr76916809669168146E072-39172
chr76916825569168382E072-38936
chr76916842669168529E072-38789
chr76916864269168722E072-38596
chr76916900369169053E072-38265
chr76916910269169152E072-38166
chr76916915369169249E072-38069
chr76917285269172932E072-34386
chr76917342369173654E072-33664
chr76917366869173727E072-33591
chr76917374969173802E072-33516
chr76917389969174244E072-33074
chr76917428269174422E072-32896
chr76917442469174486E072-32832
chr76917453569174652E072-32666
chr76920430269204657E072-2661
chr76920467169205470E072-1848
chr76921846669218566E07211148
chr76922095269221125E07213634
chr76922114369221557E07213825
chr76922157569221708E07214257
chr76922180169221851E07214483
chr76922211169222196E07214793
chr76922277669222927E07215458
chr76923400969234261E07226691
chr76923430669234584E07226988
chr76923468969234739E07227371
chr76923474769234807E07227429
chr76923856669239126E07231248
chr76924589769245947E07238579
chr76924599569246049E07238677
chr76924615569246205E07238837
chr76924637769246831E07239059
chr76924685469247039E07239536
chr76924795869248925E07240640
chr76924901069249050E07241692
chr76925284769253078E07245529
chr76925313769253448E07245819
chr76925357969253652E07246261
chr76925581069255891E07248492
chr76925597869256099E07248660
chr76925615269256331E07248834
chr76925644469256498E07249126
chr76925680269256978E07249484
chr76916676069166810E073-40508
chr76916693469166984E073-40334
chr76916709769167137E073-40181
chr76917342369173654E073-33664
chr76917366869173727E073-33591
chr76917374969173802E073-33516
chr76917389969174244E073-33074
chr76920299069203034E073-4284
chr76920317569203227E073-4091
chr76920333969204021E073-3297
chr76920430269204657E073-2661
chr76920467169205470E073-1848
chr76921608969216231E0738771
chr76922211169222196E07314793
chr76922220569222288E07314887
chr76923745669237540E07330138
chr76924539569245776E07338077
chr76924589769245947E07338579
chr76924599569246049E07338677
chr76924615569246205E07338837
chr76924637769246831E07339059
chr76924685469247039E07339536
chr76924795869248925E07340640
chr76924901069249050E07341692
chr76924929169249464E07341973
chr76925402369254231E07346705
chr76925431169254389E07346993
chr76925452269254674E07347204
chr76925472469254803E07347406
chr76925485469255024E07347536
chr76916637569166533E074-40785
chr76916676069166810E074-40508
chr76916693469166984E074-40334
chr76916709769167137E074-40181
chr76916757169167754E074-39564
chr76916825569168382E074-38936
chr76916842669168529E074-38789
chr76916864269168722E074-38596
chr76917285269172932E074-34386
chr76917342369173654E074-33664
chr76917366869173727E074-33591
chr76917374969173802E074-33516
chr76917389969174244E074-33074
chr76917428269174422E074-32896
chr76918440769184568E074-22750
chr76918469769185177E074-22141
chr76920299069203034E074-4284
chr76920317569203227E074-4091
chr76920333969204021E074-3297
chr76920430269204657E074-2661
chr76920467169205470E074-1848
chr76922023069220305E07412912
chr76922058469220699E07413266
chr76922070469220798E07413386
chr76922095269221125E07413634
chr76922114369221557E07413825
chr76922157569221708E07414257
chr76922180169221851E07414483
chr76922211169222196E07414793
chr76922220569222288E07414887
chr76922681269226862E07419494
chr76922740869227465E07420090
chr76923400969234261E07426691
chr76923430669234584E07426988
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