rs28463004

Homo sapiens
A>G
NCAM1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0157 (4712/29976,GnomAD)
G=0151 (757/5008,1000G)
G=0117 (451/3854,ALSPAC)
G=0108 (400/3708,TWINSUK)
chr11:113156036 (GRCh38.p7) (11q23.2)
CD
GWASdb2
1   publication(s)
See rs on genome
149 Enhancers around
123 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.113156036A>G
GRCh37.p13 chr 11 fix patch HG306_PATCHNW_003871078.1:g.338762A>G
NCAM1 RefSeqGeneNG_032036.1:g.199790A>G
GRCh37.p13 chr 11NC_000011.9:g.113026758A>G

Gene: NCAM1, neural cell adhesion molecule 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NCAM1 transcript variant 1NM_000615.6:c.N/AIntron Variant
NCAM1 transcript variant 3NM_001076682.3:c.N/AIntron Variant
NCAM1 transcript variant 5NM_001242607.1:c.N/AIntron Variant
NCAM1 transcript variant 4NM_001242608.1:c.N/AIntron Variant
NCAM1 transcript variant 2NM_181351.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.812G=0.188
1000GenomesAmericanSub694A=0.930G=0.070
1000GenomesEast AsianSub1008A=0.749G=0.251
1000GenomesEuropeSub1006A=0.877G=0.123
1000GenomesGlobalStudy-wide5008A=0.849G=0.151
1000GenomesSouth AsianSub978A=0.910G=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.883G=0.117
The Genome Aggregation DatabaseAfricanSub8726A=0.815G=0.185
The Genome Aggregation DatabaseAmericanSub838A=0.930G=0.070
The Genome Aggregation DatabaseEast AsianSub1616A=0.726G=0.274
The Genome Aggregation DatabaseEuropeSub18494A=0.861G=0.138
The Genome Aggregation DatabaseGlobalStudy-wide29976A=0.842G=0.157
The Genome Aggregation DatabaseOtherSub302A=0.870G=0.130
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.892G=0.108
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs284630048.49E-05cocaine dependence23958962

eQTL of rs28463004 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 rs28463004 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 )
chr11326111326237E067-12525
chr11326242327852E067-10910
chr11350483351410E06711721
chr11357716357804E06718954
chr11357812357955E06719050
chr11371159371508E06732397
chr11373524373653E06734762
chr11373706373842E06734944
chr11373933374381E06735171
chr11374494374544E06735732
chr11325785325883E068-12879
chr11325989326101E068-12661
chr11326111326237E068-12525
chr11326242327852E068-10910
chr11328032328197E068-10565
chr11328293328580E068-10182
chr11335536337159E068-1603
chr11352587352772E06813825
chr11352835354238E06814073
chr11371159371508E06832397
chr11371557371756E06832795
chr11371764372056E06833002
chr11373382373446E06834620
chr11373524373653E06834762
chr11373706373842E06834944
chr11373933374381E06835171
chr11325785325883E069-12879
chr11325989326101E069-12661
chr11326111326237E069-12525
chr11326242327852E069-10910
chr11334067334975E069-3787
chr11335536337159E069-1603
chr11350483351410E06911721
chr11352587352772E06913825
chr11352835354238E06914073
chr11371159371508E06932397
chr11371557371756E06932795
chr11371764372056E06933002
chr11372084372449E06933322
chr11372467372517E06933705
chr11372589372629E06933827
chr11372705372755E06933943
chr11372868372918E06934106
chr11373092373155E06934330
chr11373382373446E06934620
chr11373524373653E06934762
chr11373706373842E06934944
chr11373933374381E06935171
chr11375224375389E06936462
chr11375416375564E06936654
chr11387566387802E07048804
chr11387882387974E07049120
chr11388173388259E07049411
chr11324235324896E071-13866
chr11324977325190E071-13572
chr11325210325319E071-13443
chr11325321325401E071-13361
chr11325544325588E071-13174
chr11325633325706E071-13056
chr11325785325883E071-12879
chr11325989326101E071-12661
chr11326111326237E071-12525
chr11326242327852E071-10910
chr11328032328197E071-10565
chr11328293328580E071-10182
chr11335148335188E071-3574
chr11335250335303E071-3459
chr11335413335497E071-3265
chr11335536337159E071-1603
chr11337609337659E071-1103
chr11349879350005E07111117
chr11350175350272E07111413
chr11350483351410E07111721
chr11352587352772E07113825
chr11352835354238E07114073
chr11371159371508E07132397
chr11371557371756E07132795
chr11371764372056E07133002
chr11372084372449E07133322
chr11373524373653E07134762
chr11373706373842E07134944
chr11321320321364E072-17398
chr11326111326237E072-12525
chr11326242327852E072-10910
chr11335536337159E072-1603
chr11349623349683E07210861
chr11349879350005E07211117
chr11350175350272E07211413
chr11352835354238E07214073
chr11371159371508E07232397
chr11371557371756E07232795
chr11371764372056E07233002
chr11372084372449E07233322
chr11373382373446E07234620
chr11373524373653E07234762
chr11373706373842E07234944
chr11375224375389E07236462
chr11375416375564E07236654
chr11306621306699E073-32063
chr11324235324896E073-13866
chr11324977325190E073-13572
chr11326111326237E073-12525
chr11326242327852E073-10910
chr11335536337159E073-1603
chr11342185342386E0733423
chr11342390342745E0733628
chr11352444352550E07313682
chr11352587352772E07313825
chr11352835354238E07314073
chr11371557371756E07332795
chr11371764372056E07333002
chr11372084372449E07333322
chr11372467372517E07333705
chr11372589372629E07333827
chr11372705372755E07333943
chr11372868372918E07334106
chr11373092373155E07334330
chr11373382373446E07334620
chr11373524373653E07334762
chr11373706373842E07334944
chr11373933374381E07335171
chr11374494374544E07335732
chr11375416375564E07336654
chr11375787376003E07337025
chr11324235324896E074-13866
chr11324977325190E074-13572
chr11325210325319E074-13443
chr11325321325401E074-13361
chr11325544325588E074-13174
chr11325633325706E074-13056
chr11325785325883E074-12879
chr11325989326101E074-12661
chr11326111326237E074-12525
chr11326242327852E074-10910
chr11335536337159E074-1603
chr11350483351410E07411721
chr11352444352550E07413682
chr11352587352772E07413825
chr11352835354238E07414073
chr11373706373842E07434944
chr11373933374381E07435171
chr11374494374544E07435732
chr11371159371508E08132397
chr11371557371756E08132795
chr11371764372056E08133002
chr11372084372449E08133322
chr11372084372449E08233322
chr11372467372517E08233705
chr11372589372629E08233827










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11307747308462E067-30300
chr11308510308648E067-30114
chr11308882308946E067-29816
chr11309107309706E067-29056
chr11309723310261E067-28501
chr11314442314663E067-24099
chr11314994315872E067-22890
chr11315976317972E067-20790
chr11319525319915E067-18847
chr11320038320102E067-18660
chr11320332321239E067-17523
chr11368932369004E06730170
chr11370057370956E06731295
chr11307747308462E068-30300
chr11308510308648E068-30114
chr11308882308946E068-29816
chr11309107309706E068-29056
chr11309723310261E068-28501
chr11314442314663E068-24099
chr11314994315872E068-22890
chr11315976317972E068-20790
chr11318953319019E068-19743
chr11319198319265E068-19497
chr11319525319915E068-18847
chr11320038320102E068-18660
chr11320332321239E068-17523
chr11368932369004E06830170
chr11369769370052E06831007
chr11370057370956E06831295
chr11307747308462E069-30300
chr11308510308648E069-30114
chr11308882308946E069-29816
chr11309107309706E069-29056
chr11309723310261E069-28501
chr11314442314663E069-24099
chr11314994315872E069-22890
chr11319525319915E069-18847
chr11320038320102E069-18660
chr11320332321239E069-17523
chr11368932369004E06930170
chr11369769370052E06931007
chr11370057370956E06931295
chr11318953319019E070-19743
chr11319198319265E070-19497
chr11319525319915E070-18847
chr11320038320102E070-18660
chr11320332321239E070-17523
chr11368932369004E07030170
chr11369056369084E07030294
chr11369098369261E07030336
chr11369300369768E07030538
chr11369769370052E07031007
chr11370057370956E07031295
chr11307747308462E071-30300
chr11308510308648E071-30114
chr11308882308946E071-29816
chr11309107309706E071-29056
chr11309723310261E071-28501
chr11314442314663E071-24099
chr11314994315872E071-22890
chr11315976317972E071-20790
chr11318953319019E071-19743
chr11319198319265E071-19497
chr11319525319915E071-18847
chr11320038320102E071-18660
chr11320332321239E071-17523
chr11370057370956E07131295
chr11307747308462E072-30300
chr11308510308648E072-30114
chr11308882308946E072-29816
chr11309107309706E072-29056
chr11309723310261E072-28501
chr11314442314663E072-24099
chr11314994315872E072-22890
chr11315976317972E072-20790
chr11318953319019E072-19743
chr11319198319265E072-19497
chr11319525319915E072-18847
chr11320038320102E072-18660
chr11320332321239E072-17523
chr11368932369004E07230170
chr11369769370052E07231007
chr11370057370956E07231295
chr11307747308462E073-30300
chr11308510308648E073-30114
chr11308882308946E073-29816
chr11309107309706E073-29056
chr11309723310261E073-28501
chr11314442314663E073-24099
chr11314994315872E073-22890
chr11315976317972E073-20790
chr11318953319019E073-19743
chr11319198319265E073-19497
chr11319525319915E073-18847
chr11320038320102E073-18660
chr11320332321239E073-17523
chr11368932369004E07330170
chr11369769370052E07331007
chr11370057370956E07331295
chr11308510308648E074-30114
chr11308882308946E074-29816
chr11309107309706E074-29056
chr11309723310261E074-28501
chr11314994315872E074-22890
chr11318953319019E074-19743
chr11319198319265E074-19497
chr11319525319915E074-18847
chr11320038320102E074-18660
chr11320332321239E074-17523
chr11368932369004E07430170
chr11370057370956E07431295
chr11368932369004E08130170
chr11318953319019E082-19743
chr11319198319265E082-19497
chr11319525319915E082-18847
chr11320038320102E082-18660
chr11320332321239E082-17523
chr11368932369004E08230170
chr11369056369084E08230294
chr11369098369261E08230336
chr11369300369768E08230538
chr11369769370052E08231007
chr11370057370956E08231295