rs4605456

Homo sapiens
C>T
NCAM2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0168 (5020/29854,GnomAD)
C==0159 (4638/29118,TOPMED)
C==0105 (527/5008,1000G)
C==0202 (778/3854,ALSPAC)
C==0198 (735/3708,TWINSUK)
chr21:21264514 (GRCh38.p7) (21q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
55 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.21264514C>T
GRCh37.p13 chr 21NC_000021.8:g.22636834C>T

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
1000GenomesAfricanSub1322C=0.095T=0.905
1000GenomesAmericanSub694C=0.130T=0.870
1000GenomesEast AsianSub1008C=0.006T=0.994
1000GenomesEuropeSub1006C=0.222T=0.778
1000GenomesGlobalStudy-wide5008C=0.105T=0.895
1000GenomesSouth AsianSub978C=0.080T=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.202T=0.798
The Genome Aggregation DatabaseAfricanSub8700C=0.109T=0.891
The Genome Aggregation DatabaseAmericanSub830C=0.150T=0.850
The Genome Aggregation DatabaseEast AsianSub1622C=0.004T=0.996
The Genome Aggregation DatabaseEuropeSub18400C=0.210T=0.789
The Genome Aggregation DatabaseGlobalStudy-wide29854C=0.168T=0.831
The Genome Aggregation DatabaseOtherSub302C=0.240T=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.159T=0.840
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.198T=0.802
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs46054568.79E-05alcoholismpha002893

eQTL of rs4605456 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 rs4605456 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 )
chr212258844622588554E067-48280
chr212258861022588734E067-48100
chr212259842322598488E067-38346
chr212259871822598785E067-38049
chr212259890922599069E067-37765
chr212259914022599188E067-37646
chr212260940522609501E067-27333
chr212259842322598488E068-38346
chr212259871822598785E068-38049
chr212259890922599069E068-37765
chr212259914022599188E068-37646
chr212260443922604511E068-32323
chr212260803422608078E068-28756
chr212260940522609501E068-27333
chr212262760922627745E068-9089
chr212262934622629397E068-7437
chr212264051222640562E0683678
chr212267939622679436E06842562
chr212258844622588554E069-48280
chr212258861022588734E069-48100
chr212259842322598488E069-38346
chr212259890922599069E069-37765
chr212259914022599188E069-37646
chr212262934622629397E069-7437
chr212264051222640562E0693678
chr212267939622679436E06942562
chr212258756722587617E071-49217
chr212258844622588554E071-48280
chr212258861022588734E071-48100
chr212259842322598488E071-38346
chr212259871822598785E071-38049
chr212259890922599069E071-37765
chr212259914022599188E071-37646
chr212260940522609501E071-27333
chr212262751422627560E071-9274
chr212262760922627745E071-9089
chr212262934622629397E071-7437
chr212267939622679436E07142562
chr212258844622588554E072-48280
chr212258861022588734E072-48100
chr212260470222605772E072-31062
chr212258844622588554E073-48280
chr212258861022588734E073-48100
chr212264051222640562E0733678
chr212258861022588734E074-48100
chr212259842322598488E074-38346
chr212259871822598785E074-38049
chr212259890922599069E074-37765
chr212259914022599188E074-37646
chr212260470222605772E074-31062
chr212262751422627560E074-9274
chr212262760922627745E074-9089
chr212262934622629397E074-7437
chr212264245022642507E0745616
chr212267939622679436E07442562