rs12632235

Homo sapiens
C>T
ABI3BP : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0066 (1978/29938,GnomAD)
T=0092 (2701/29118,TOPMED)
T=0070 (975/13764,ExAC)
T=0109 (546/5008,1000G)
T=0017 (66/3854,ALSPAC)
T=0016 (61/3708,TWINSUK)
chr3:100817440 (GRCh38.p7) (3q12.2)
AD
GWASCatalog
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.100817440C>T
GRCh37.p13 chr 3NC_000003.11:g.100536284C>T

Gene: ABI3BP, ABI family member 3 binding protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ABI3BP transcript variant 5NM_015429.3:c.N/AIntron Variant
ABI3BP transcript variant X46XM_011512659.1:c.N/AIntron Variant
ABI3BP transcript variant X50XM_005247309.1:c....XM_005247309.1:c.2271G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X47XP_005247366.1:p....XP_005247366.1:p.Thr757=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X1XM_005247281.2:c....XM_005247281.2:c.3165G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X1XP_005247338.1:p....XP_005247338.1:p.Thr1055=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X2XM_005247282.2:c....XM_005247282.2:c.3123G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X2XP_005247339.1:p....XP_005247339.1:p.Thr1041=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X3XM_005247283.2:c....XM_005247283.2:c.3165G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X3XP_005247340.1:p....XP_005247340.1:p.Thr1055=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X4XM_005247284.2:c....XM_005247284.2:c.3108G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X4XP_005247341.1:p....XP_005247341.1:p.Thr1036=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X7XM_011512639.1:c....XM_011512639.1:c.3105G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X7XP_011510941.1:p....XP_011510941.1:p.Thr1035=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X6XM_005247285.2:c....XM_005247285.2:c.3105G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X6XP_005247342.1:p....XP_005247342.1:p.Thr1035=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X8XM_005247287.2:c....XM_005247287.2:c.3165G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X8XP_005247344.1:p....XP_005247344.1:p.Thr1055=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X9XM_011512640.1:c....XM_011512640.1:c.3099G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X9XP_011510942.1:p....XP_011510942.1:p.Thr1033=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X10XM_005247288.2:c....XM_005247288.2:c.3093G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X10XP_005247345.1:p....XP_005247345.1:p.Thr1031=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X12XM_011512641.1:c....XM_011512641.1:c.3090G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X12XP_011510943.1:p....XP_011510943.1:p.Thr1030=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X11XM_005247289.2:c....XM_005247289.2:c.3090G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X11XP_005247346.1:p....XP_005247346.1:p.Thr1030=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X14XM_005247290.2:c....XM_005247290.2:c.3165G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X14XP_005247347.1:p....XP_005247347.1:p.Thr1055=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X15XM_005247291.2:c....XM_005247291.2:c.3165G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X15XP_005247348.1:p....XP_005247348.1:p.Thr1055=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X16XM_011512643.1:c....XM_011512643.1:c.3084G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X16XP_011510945.1:p....XP_011510945.1:p.Thr1028=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X17XM_011512644.1:c....XM_011512644.1:c.3081G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X17XP_011510946.1:p....XP_011510946.1:p.Thr1027=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X18XM_011512645.1:c....XM_011512645.1:c.3081G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X18XP_011510947.1:p....XP_011510947.1:p.Thr1027=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X19XM_011512646.1:c....XM_011512646.1:c.3072G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X19XP_011510948.1:p....XP_011510948.1:p.Thr1024=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X20XM_005247293.2:c....XM_005247293.2:c.3165G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X20XP_005247350.1:p....XP_005247350.1:p.Thr1055=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X21XM_005247294.2:c....XM_005247294.2:c.3048G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X21XP_005247351.1:p....XP_005247351.1:p.Thr1016=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X22XM_011512647.1:c....XM_011512647.1:c.3030G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X23XP_011510949.1:p....XP_011510949.1:p.Thr1010=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X23XM_005247295.2:c....XM_005247295.2:c.3027G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X24XP_005247352.1:p....XP_005247352.1:p.Thr1009=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X24XM_011512648.1:c....XM_011512648.1:c.3027G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X25XP_011510950.1:p....XP_011510950.1:p.Thr1009=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X25XM_005247296.2:c....XM_005247296.2:c.3024G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X26XP_005247353.1:p....XP_005247353.1:p.Thr1008=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X26XM_011512649.1:c....XM_011512649.1:c.3021G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X27XP_011510951.1:p....XP_011510951.1:p.Thr1007=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X27XM_005247298.2:c....XM_005247298.2:c.3021G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X28XP_005247355.1:p....XP_005247355.1:p.Thr1007=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X29XM_006713569.2:c....XM_006713569.2:c.3165G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X30XP_006713632.1:p....XP_006713632.1:p.Thr1055=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X30XM_005247300.2:c....XM_005247300.2:c.2991G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X31XP_005247357.1:p....XP_005247357.1:p.Thr997=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X31XM_006713570.2:c....XM_006713570.2:c.2979G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X32XP_006713633.1:p....XP_006713633.1:p.Thr993=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X32XM_011512651.1:c....XM_011512651.1:c.2964G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X33XP_011510953.1:p....XP_011510953.1:p.Thr988=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X33XM_005247301.2:c....XM_005247301.2:c.3165G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X34XP_005247358.1:p....XP_005247358.1:p.Thr1055=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X34XM_005247302.2:c....XM_005247302.2:c.2961G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X35XP_005247359.1:p....XP_005247359.1:p.Thr987=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X36XM_011512652.1:c....XM_011512652.1:c.2952G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X36XP_011510954.1:p....XP_011510954.1:p.Thr984=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X37XM_006713571.2:c....XM_006713571.2:c.2949G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X37XP_006713634.1:p....XP_006713634.1:p.Thr983=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X39XM_006713572.2:c....XM_006713572.2:c.2943G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X39XP_006713635.1:p....XP_006713635.1:p.Thr981=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X38XM_011512653.1:c....XM_011512653.1:c.2943G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X38XP_011510955.1:p....XP_011510955.1:p.Thr981=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X40XM_011512654.1:c....XM_011512654.1:c.2934G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X40XP_011510956.1:p....XP_011510956.1:p.Thr978=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X41XM_005247303.2:c....XM_005247303.2:c.2904G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X41XP_005247360.1:p....XP_005247360.1:p.Thr968=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X43XM_011512656.1:c....XM_011512656.1:c.2868G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X42XP_011510958.1:p....XP_011510958.1:p.Thr956=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X44XM_011512657.1:c....XM_011512657.1:c.2988G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X43XP_011510959.1:p....XP_011510959.1:p.Thr996=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X45XM_011512658.1:c....XM_011512658.1:c.2853G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X45XP_011510960.1:p....XP_011510960.1:p.Thr951=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X47XM_005247305.2:c....XM_005247305.2:c.2820G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X44XP_005247362.1:p....XP_005247362.1:p.Thr940=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X48XM_011512660.1:c....XM_011512660.1:c.2802G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X45XP_011510962.1:p....XP_011510962.1:p.Thr934=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X49XM_005247306.2:c....XM_005247306.2:c.2757G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X46XP_005247363.1:p....XP_005247363.1:p.Thr919=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X5XM_017006105.1:c....XM_017006105.1:c.3108G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X5XP_016861594.1:p....XP_016861594.1:p.Thr1036=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X13XM_017006106.1:c....XM_017006106.1:c.3165G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X13XP_016861595.1:p....XP_016861595.1:p.Thr1055=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X28XM_005247299.3:c....XM_005247299.3:c.3018G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X29XP_005247356.1:p....XP_005247356.1:p.Thr1006=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X35XM_017006107.1:c....XM_017006107.1:c.3081G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X36XP_016861596.1:p....XP_016861596.1:p.Thr1027=T [Thr]> T [Thr]Synonymous Variant
ABI3BP transcript variant X42XM_017006108.1:c....XM_017006108.1:c.2868G>AT [ACG]> T [ACA]Coding Sequence Variant
target of Nesh-SH3 isoform X42XP_016861597.1:p....XP_016861597.1:p.Thr956=T [Thr]> T [Thr]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.809T=0.191
1000GenomesAmericanSub694C=0.890T=0.110
1000GenomesEast AsianSub1008C=0.956T=0.044
1000GenomesEuropeSub1006C=0.974T=0.026
1000GenomesGlobalStudy-wide5008C=0.891T=0.109
1000GenomesSouth AsianSub978C=0.850T=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.983T=0.017
The Exome Aggregation ConsortiumAmericanSub744C=0.870T=0.130
The Exome Aggregation ConsortiumAsianSub7518C=0.899T=0.101
The Exome Aggregation ConsortiumEuropeSub5320C=0.980T=0.020
The Exome Aggregation ConsortiumGlobalStudy-wide13764C=0.929T=0.070
The Exome Aggregation ConsortiumOtherSub182C=0.960T=0.040
The Genome Aggregation DatabaseAfricanSub8700C=0.835T=0.165
The Genome Aggregation DatabaseAmericanSub836C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1612C=0.962T=0.038
The Genome Aggregation DatabaseEuropeSub18488C=0.978T=0.021
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.933T=0.066
The Genome Aggregation DatabaseOtherSub302C=0.990T=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.907T=0.092
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.984T=0.016
PMID Title Author Journal
26365420The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.Mbarek HAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs126322355E-06alcohol dependence26365420

eQTL of rs12632235 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 rs12632235 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 )
chr3100552551100552630E06716267
chr3100552551100552630E07116267
chr3100552551100552630E07216267
chr3100552551100552630E07416267