rs8127865

Homo sapiens
A>G
NCAM2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0168 (5047/29962,GnomAD)
A==0159 (4632/29118,TOPMED)
A==0105 (527/5008,1000G)
A==0203 (782/3854,ALSPAC)
A==0199 (738/3708,TWINSUK)
chr21:21271400 (GRCh38.p7) (21q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.21271400A>G
GRCh37.p13 chr 21NC_000021.8:g.22643720A>G

Gene: NCAM2, neural cell adhesion molecule 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NCAM2 transcriptNM_004540.3:c.N/AIntron Variant
NCAM2 transcript variant X1XM_011529575.2:c.N/AIntron Variant
NCAM2 transcript variant X2XM_011529576.2:c.N/AIntron Variant
NCAM2 transcript variant X4XM_011529579.2:c.N/AIntron Variant
NCAM2 transcript variant X5XM_011529580.2:c.N/AIntron Variant
NCAM2 transcript variant X6XM_011529581.2:c.N/AIntron Variant
NCAM2 transcript variant X8XM_011529582.2:c.N/AIntron Variant
NCAM2 transcript variant X3XM_017028353.1:c.N/AIntron Variant
NCAM2 transcript variant X7XM_017028354.1:c.N/AIntron Variant
NCAM2 transcript variant X9XM_017028355.1:c.N/AIntron Variant
NCAM2 transcript variant X10XM_017028356.1:c.N/AIntron Variant
NCAM2 transcript variant X12XM_017028357.1:c.N/AIntron Variant
NCAM2 transcript variant X13XM_017028358.1:c.N/AIntron Variant
NCAM2 transcript variant X11XM_011529585.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.095G=0.905
1000GenomesAmericanSub694A=0.130G=0.870
1000GenomesEast AsianSub1008A=0.006G=0.994
1000GenomesEuropeSub1006A=0.222G=0.778
1000GenomesGlobalStudy-wide5008A=0.105G=0.895
1000GenomesSouth AsianSub978A=0.080G=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.203G=0.797
The Genome Aggregation DatabaseAfricanSub8722A=0.108G=0.892
The Genome Aggregation DatabaseAmericanSub836A=0.150G=0.850
The Genome Aggregation DatabaseEast AsianSub1620A=0.004G=0.996
The Genome Aggregation DatabaseEuropeSub18484A=0.211G=0.789
The Genome Aggregation DatabaseGlobalStudy-wide29962A=0.168G=0.831
The Genome Aggregation DatabaseOtherSub300A=0.240G=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.159G=0.840
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.199G=0.801
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
rs81278650.000052alcoholismpha002893
rs81278650.000052alcohol dependence20201924
rs81278650.00085Alcohol dependence (early age of onset)20201924

eQTL of rs8127865 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 rs8127865 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 )
chr212259842322598488E067-45232
chr212259871822598785E067-44935
chr212259890922599069E067-44651
chr212259914022599188E067-44532
chr212260940522609501E067-34219
chr212259842322598488E068-45232
chr212259871822598785E068-44935
chr212259890922599069E068-44651
chr212259914022599188E068-44532
chr212260443922604511E068-39209
chr212260803422608078E068-35642
chr212260940522609501E068-34219
chr212262760922627745E068-15975
chr212262934622629397E068-14323
chr212264051222640562E068-3158
chr212267939622679436E06835676
chr212259842322598488E069-45232
chr212259890922599069E069-44651
chr212259914022599188E069-44532
chr212262934622629397E069-14323
chr212264051222640562E069-3158
chr212267939622679436E06935676
chr212259842322598488E071-45232
chr212259871822598785E071-44935
chr212259890922599069E071-44651
chr212259914022599188E071-44532
chr212260940522609501E071-34219
chr212262751422627560E071-16160
chr212262760922627745E071-15975
chr212262934622629397E071-14323
chr212267939622679436E07135676
chr212260470222605772E072-37948
chr212264051222640562E073-3158
chr212259842322598488E074-45232
chr212259871822598785E074-44935
chr212259890922599069E074-44651
chr212259914022599188E074-44532
chr212260470222605772E074-37948
chr212262751422627560E074-16160
chr212262760922627745E074-15975
chr212262934622629397E074-14323
chr212264245022642507E074-1213
chr212267939622679436E07435676