rs2908763

Homo sapiens
T>C / T>G
ALS2CR11 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0277 (8312/29938,GnomAD)
C=0282 (8225/29118,TOPMED)
C=0238 (1191/5008,1000G)
C=0290 (1117/3854,ALSPAC)
C=0292 (1082/3708,TWINSUK)
chr2:201503860 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.201503860T>C
GRCh38.p7 chr 2NC_000002.12:g.201503860T>G
GRCh37.p13 chr 2NC_000002.11:g.202368583T>C
GRCh37.p13 chr 2NC_000002.11:g.202368583T>G

Gene: ALS2CR11, amyotrophic lateral sclerosis 2 chromosome region candidate 11(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C2CD6 transcript variant 4NM_001168216.1:c.N/AIntron Variant
C2CD6 transcript variant 1NM_001168221.1:c.N/AIntron Variant
C2CD6 transcript variant 2NM_152525.5:c.N/AIntron Variant
C2CD6 transcript variant 3NM_001168217.1:c.N/AGenic Downstream Transcript Variant
C2CD6 transcript variant X4XM_006712331.3:c.N/AIntron Variant
C2CD6 transcript variant X5XM_006712332.3:c.N/AIntron Variant
C2CD6 transcript variant X8XM_006712333.3:c.N/AIntron Variant
C2CD6 transcript variant X7XM_006712334.3:c.N/AIntron Variant
ALS2CR11 transcript variant X5XM_006712335.3:c.N/AIntron Variant
C2CD6 transcript variant X11XM_006712336.3:c.N/AIntron Variant
C2CD6 transcript variant X10XM_011510736.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.800C=0.200
1000GenomesAmericanSub694T=0.610C=0.390
1000GenomesEast AsianSub1008T=0.752C=0.248
1000GenomesEuropeSub1006T=0.683C=0.317
1000GenomesGlobalStudy-wide5008T=0.762C=0.238
1000GenomesSouth AsianSub978T=0.910C=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.710C=0.290
The Genome Aggregation DatabaseAfricanSub8708T=0.783C=0.217
The Genome Aggregation DatabaseAmericanSub836T=0.610C=0.390
The Genome Aggregation DatabaseEast AsianSub1618T=0.780C=0.220
The Genome Aggregation DatabaseEuropeSub18474T=0.695C=0.304
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.722C=0.277
The Genome Aggregation DatabaseOtherSub302T=0.650C=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.717C=0.282
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.708C=0.292
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
rs29087630.00093alcohol dependence20201924

eQTL of rs2908763 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 rs2908763 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 )
chr2158936211158936455E0688005
chr2158890789158891233E070-36973
chr2158895122158895270E070-32936
chr2158898016158898377E070-29829
chr2158898716158899052E070-29154
chr2158899347158899603E070-28603
chr2158900091158900353E070-27853
chr2158972032158972080E07043826
chr2158972161158972259E07043955
chr2158977620158977670E07049414
chr2158978014158978064E07049808
chr2158972032158972080E07143826
chr2158972161158972259E07143955
chr2158977299158977465E08149093
chr2158977620158977670E08149414
chr2158971841158971972E08243635
chr2158972032158972080E08243826
chr2158972161158972259E08243955