rs12434868

Homo sapiens
G>A
MAX : Intron Variant
CHURC1-FNTB : Intron Variant
FNTB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0076 (2302/29972,GnomAD)
A=0074 (2169/29118,TOPMED)
A=0114 (571/5008,1000G)
A=0053 (203/3854,ALSPAC)
A=0052 (194/3708,TWINSUK)
chr14:65033431 (GRCh38.p7) (14q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
227 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.65033431G>A
GRCh37.p13 chr 14NC_000014.8:g.65500149G>A
MAX RefSeqGene LRG_530

Gene: CHURC1-FNTB, CHURC1-FNTB readthrough(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CHURC1-FNTB transcript variant 2NM_001202558.1:c.N/AIntron Variant
CHURC1-FNTB transcript variant 1NM_001202559.1:c.N/AIntron Variant

Gene: MAX, MYC associated factor X(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MAX transcript variant 8NM_001271069.1:c.N/AIntron Variant
MAX transcript variant 6NM_197957.3:c.N/AIntron Variant
MAX transcript variant 7NM_001271068.1:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 11NM_001320415.1:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 1NM_002382.4:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 2NM_145112.2:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 3NM_145113.2:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 4NM_145114.2:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 9NR_073137.1:n.N/AGenic Downstream Transcript Variant
MAX transcript variant 10NR_073138.1:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X1XM_011536773.2:c.N/AGenic Downstream Transcript Variant
MAX transcript variant X6XM_017021312.1:c.N/AGenic Downstream Transcript Variant
MAX transcript variant X8XM_017021313.1:c.N/AGenic Downstream Transcript Variant
MAX transcript variant X5XR_001750326.1:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X8XR_001750327.1:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X2XR_943450.2:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X3XR_943451.2:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X4XR_943452.2:n.N/AGenic Downstream Transcript Variant

Gene: FNTB, farnesyltransferase, CAAX box, beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FNTB transcriptNM_002028.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.961A=0.039
1000GenomesAmericanSub694G=0.830A=0.170
1000GenomesEast AsianSub1008G=0.723A=0.277
1000GenomesEuropeSub1006G=0.936A=0.064
1000GenomesGlobalStudy-wide5008G=0.886A=0.114
1000GenomesSouth AsianSub978G=0.940A=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.947A=0.053
The Genome Aggregation DatabaseAfricanSub8726G=0.955A=0.045
The Genome Aggregation DatabaseAmericanSub838G=0.840A=0.160
The Genome Aggregation DatabaseEast AsianSub1612G=0.704A=0.296
The Genome Aggregation DatabaseEuropeSub18494G=0.931A=0.068
The Genome Aggregation DatabaseGlobalStudy-wide29972G=0.923A=0.076
The Genome Aggregation DatabaseOtherSub302G=0.930A=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.925A=0.074
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.948A=0.052
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
rs124348680.00094alcohol dependence(early age of onset)20201924
rs124348680.00098alcohol dependence20201924

eQTL of rs12434868 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 rs12434868 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 )
chr146545017265450898E067-49251
chr146546966065469770E067-30379
chr146546988565469964E067-30185
chr146547033265470387E067-29762
chr146547041665470505E067-29644
chr146547072665470812E067-29337
chr146547836765478559E067-21590
chr146547874565478815E067-21334
chr146547892165478971E067-21178
chr146548222265483692E067-16457
chr146548631065486415E067-13734
chr146548646965486555E067-13594
chr146548662965487161E067-12988
chr146550147865501587E0671329
chr146550164265502186E0671493
chr146553688165537038E06736732
chr146553704165537879E06736892
chr146554556065545649E06745411
chr146554573265545776E06745583
chr146554588165546330E06745732
chr146554634865547006E06746199
chr146554743465547519E06747285
chr146554756165547601E06747412
chr146554781965547930E06747670
chr146554809565548435E06747946
chr146554850365548588E06748354
chr146545017265450898E068-49251
chr146545267765452894E068-47255
chr146547836765478559E068-21590
chr146547874565478815E068-21334
chr146547980165480317E068-19832
chr146548222265483692E068-16457
chr146550147865501587E0681329
chr146550164265502186E0681493
chr146552893365529094E06828784
chr146552915265529249E06829003
chr146552957365529688E06829424
chr146553623365536455E06836084
chr146553652765536583E06836378
chr146553671165536761E06836562
chr146553688165537038E06836732
chr146553704165537879E06836892
chr146554093065540992E06840781
chr146554105365541149E06840904
chr146554116965542039E06841020
chr146554556065545649E06845411
chr146554573265545776E06845583
chr146554588165546330E06845732
chr146554634865547006E06846199
chr146554743465547519E06847285
chr146554756165547601E06847412
chr146554781965547930E06847670
chr146554809565548435E06847946
chr146554850365548588E06848354
chr146554869165548918E06848542
chr146554907565549138E06848926
chr146554929165549371E06849142
chr146554963765549838E06849488
chr146554989565549980E06849746
chr146555001665550104E06849867
chr146547836765478559E069-21590
chr146547874565478815E069-21334
chr146547892165478971E069-21178
chr146547902665479159E069-20990
chr146547924265479296E069-20853
chr146547933565479495E069-20654
chr146547980165480317E069-19832
chr146548222265483692E069-16457
chr146548387865483961E069-16188
chr146548419065484294E069-15855
chr146548631065486415E069-13734
chr146548646965486555E069-13594
chr146548662965487161E069-12988
chr146550147865501587E0691329
chr146550164265502186E0691493
chr146550233165502405E0692182
chr146553623365536455E06936084
chr146553652765536583E06936378
chr146553671165536761E06936562
chr146553688165537038E06936732
chr146554093065540992E06940781
chr146554105365541149E06940904
chr146554116965542039E06941020
chr146554588165546330E06945732
chr146554634865547006E06946199
chr146554743465547519E06947285
chr146554756165547601E06947412
chr146554781965547930E06947670
chr146554809565548435E06947946
chr146554850365548588E06948354
chr146554869165548918E06948542
chr146545017265450898E071-49251
chr146545496765455051E071-45098
chr146545664965456854E071-43295
chr146545690765457449E071-42700
chr146545746365457605E071-42544
chr146546393665464520E071-35629
chr146547836765478559E071-21590
chr146547874565478815E071-21334
chr146547892165478971E071-21178
chr146547902665479159E071-20990
chr146547924265479296E071-20853
chr146547933565479495E071-20654
chr146547980165480317E071-19832
chr146548222265483692E071-16457
chr146548387865483961E071-16188
chr146548419065484294E071-15855
chr146548631065486415E071-13734
chr146548646965486555E071-13594
chr146548662965487161E071-12988
chr146550086465500981E071715
chr146550115165501243E0711002
chr146550124665501315E0711097
chr146550147865501587E0711329
chr146550164265502186E0711493
chr146550233165502405E0712182
chr146553671165536761E07136562
chr146553688165537038E07136732
chr146553704165537879E07136892
chr146554556065545649E07145411
chr146554573265545776E07145583
chr146554588165546330E07145732
chr146554634865547006E07146199
chr146554743465547519E07147285
chr146554756165547601E07147412
chr146554781965547930E07147670
chr146554809565548435E07147946
chr146554850365548588E07148354
chr146554963765549838E07149488
chr146554989565549980E07149746
chr146555001665550104E07149867
chr146545267765452894E072-47255
chr146545496765455051E072-45098
chr146547836765478559E072-21590
chr146547874565478815E072-21334
chr146547892165478971E072-21178
chr146547902665479159E072-20990
chr146547924265479296E072-20853
chr146547933565479495E072-20654
chr146548222265483692E072-16457
chr146548631065486415E072-13734
chr146548646965486555E072-13594
chr146548662965487161E072-12988
chr146550115165501243E0721002
chr146550124665501315E0721097
chr146550164265502186E0721493
chr146550233165502405E0722182
chr146553623365536455E07236084
chr146553652765536583E07236378
chr146553671165536761E07236562
chr146553688165537038E07236732
chr146553704165537879E07236892
chr146554588165546330E07245732
chr146554809565548435E07247946
chr146554850365548588E07248354
chr146554869165548918E07248542
chr146545496765455051E073-45098
chr146547892165478971E073-21178
chr146547902665479159E073-20990
chr146548222265483692E073-16457
chr146548387865483961E073-16188
chr146550147865501587E0731329
chr146550164265502186E0731493
chr146550233165502405E0732182
chr146553671165536761E07336562
chr146553688165537038E07336732
chr146553704165537879E07336892
chr146553824965538864E07338100
chr146554093065540992E07340781
chr146554105365541149E07340904
chr146554332565543499E07343176
chr146554362865543678E07343479
chr146554372765543780E07343578
chr146554634865547006E07346199
chr146554743465547519E07347285
chr146554756165547601E07347412
chr146554781965547930E07347670
chr146554809565548435E07347946
chr146554850365548588E07348354
chr146554869165548918E07348542
chr146545640265456491E074-43658
chr146545657965456629E074-43520
chr146545664965456854E074-43295
chr146545690765457449E074-42700
chr146545746365457605E074-42544
chr146545762765457677E074-42472
chr146545770065457877E074-42272
chr146546393665464520E074-35629
chr146546465765464744E074-35405
chr146546491065464964E074-35185
chr146546502365465090E074-35059
chr146547836765478559E074-21590
chr146547874565478815E074-21334
chr146547892165478971E074-21178
chr146547902665479159E074-20990
chr146547924265479296E074-20853
chr146547933565479495E074-20654
chr146548387865483961E074-16188
chr146548419065484294E074-15855
chr146548631065486415E074-13734
chr146548646965486555E074-13594
chr146548662965487161E074-12988
chr146550115165501243E0741002
chr146550124665501315E0741097
chr146550147865501587E0741329
chr146550164265502186E0741493
chr146550233165502405E0742182
chr146553623365536455E07436084
chr146553652765536583E07436378
chr146553671165536761E07436562
chr146553688165537038E07436732
chr146553704165537879E07436892
chr146553894465540900E07438795
chr146554093065540992E07440781
chr146554105365541149E07440904
chr146554556065545649E07445411
chr146554573265545776E07445583
chr146554588165546330E07445732
chr146554743465547519E07447285
chr146554756165547601E07447412
chr146554781965547930E07447670
chr146554809565548435E07447946
chr146554850365548588E07448354
chr146554869165548918E07448542
chr146545496765455051E081-45098
chr146550147865501587E0811329
chr146546393665464520E082-35629









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr146545292265454719E067-45430
chr146545292265454719E068-45430
chr146545292265454719E069-45430
chr146545292265454719E070-45430
chr146545292265454719E071-45430
chr146545292265454719E072-45430
chr146545292265454719E073-45430
chr146545292265454719E074-45430
chr146545292265454719E081-45430
chr146545292265454719E082-45430