rs8126935

Homo sapiens
A>G
NCAM2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0198 (5928/29920,GnomAD)
A==0207 (6037/29118,TOPMED)
A==0140 (702/5008,1000G)
A==0206 (795/3854,ALSPAC)
A==0200 (740/3708,TWINSUK)
chr21:21315260 (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.21315260A>G
GRCh37.p13 chr 21NC_000021.8:g.22687580A>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 X11XM_011529585.2: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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.221G=0.779
1000GenomesAmericanSub694A=0.140G=0.860
1000GenomesEast AsianSub1008A=0.007G=0.993
1000GenomesEuropeSub1006A=0.222G=0.778
1000GenomesGlobalStudy-wide5008A=0.140G=0.860
1000GenomesSouth AsianSub978A=0.080G=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.206G=0.794
The Genome Aggregation DatabaseAfricanSub8710A=0.206G=0.794
The Genome Aggregation DatabaseAmericanSub838A=0.160G=0.840
The Genome Aggregation DatabaseEast AsianSub1616A=0.004G=0.996
The Genome Aggregation DatabaseEuropeSub18454A=0.212G=0.787
The Genome Aggregation DatabaseGlobalStudy-wide29920A=0.198G=0.801
The Genome Aggregation DatabaseOtherSub302A=0.240G=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.207G=0.792
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.200G=0.800
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs81269357.53E-05alcoholismpha002893

eQTL of rs8126935 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 rs8126935 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 )
chr212264051222640562E068-47018
chr212267939622679436E068-8144
chr212264051222640562E069-47018
chr212267939622679436E069-8144
chr212270467522704725E06917095
chr212267939622679436E071-8144
chr212264051222640562E073-47018
chr212264245022642507E074-45073
chr212267939622679436E074-8144
chr212271075722710807E07423177