rs10500885

Homo sapiens
T>C
NELL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0130 (3897/29918,GnomAD)
C=0114 (3342/29118,TOPMED)
C=0152 (763/5008,1000G)
C=0107 (413/3854,ALSPAC)
C=0112 (416/3708,TWINSUK)
chr11:20993514 (GRCh38.p7) (11p15.1)
AD
GWASdb2
2   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.20993514T>C
GRCh37.p13 chr 11NC_000011.9:g.21015060T>C

Gene: NELL1, neural EGFL like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NELL1 transcript variant 3NM_001288713.1:c.N/AIntron Variant
NELL1 transcript variant 4NM_001288714.1:c.N/AIntron Variant
NELL1 transcript variant 1NM_006157.4:c.N/AIntron Variant
NELL1 transcript variant 2NM_201551.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.876C=0.124
1000GenomesAmericanSub694T=0.800C=0.200
1000GenomesEast AsianSub1008T=0.727C=0.273
1000GenomesEuropeSub1006T=0.896C=0.104
1000GenomesGlobalStudy-wide5008T=0.848C=0.152
1000GenomesSouth AsianSub978T=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.893C=0.107
The Genome Aggregation DatabaseAfricanSub8694T=0.876C=0.124
The Genome Aggregation DatabaseAmericanSub838T=0.800C=0.200
The Genome Aggregation DatabaseEast AsianSub1612T=0.738C=0.262
The Genome Aggregation DatabaseEuropeSub18472T=0.882C=0.117
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.869C=0.130
The Genome Aggregation DatabaseOtherSub302T=0.830C=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.885C=0.114
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.888C=0.112
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
17684544Systematic association mapping identifies NELL1 as a novel IBD disease gene.Franke APLoS One

P-Value

SNP ID p-value Traits Study
rs105008850.000776alcohol dependence20201924

eQTL of rs10500885 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 rs10500885 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 )
chr112104219021042231E08127130
chr112104233121042405E08127271
chr112104254421042870E08127484