rs2609954

Homo sapiens
G>A
CAPN13 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0216 (6382/29504,GnomAD)
G==0200 (5822/29116,TOPMED)
G==0211 (1055/5008,1000G)
G==0190 (733/3854,ALSPAC)
G==0191 (709/3708,TWINSUK)
chr2:30648942 (GRCh38.p7) (2p23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.30648942G>A
GRCh37.p13 chr 2NC_000002.11:g.30871808G>A

Gene: CAPN13, calpain 13(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CAPN13 transcriptNM_144575.2:c.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X7XM_017005265.1:c.N/AIntron Variant
CAPN13 transcript variant X1XM_011533159.2:c.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X4XM_011533160.2:c.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X6XM_011533161.2:c.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X11XM_011533163.2:c.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X5XM_017005264.1:c.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X8XM_017005266.1:c.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X9XR_001739074.1:n.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X2XR_939741.2:n.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X3XR_939742.2:n.N/AGenic Downstream Transcript Variant
CAPN13 transcript variant X9XR_939743.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.229A=0.771
1000GenomesAmericanSub694G=0.130A=0.870
1000GenomesEast AsianSub1008G=0.134A=0.866
1000GenomesEuropeSub1006G=0.208A=0.792
1000GenomesGlobalStudy-wide5008G=0.211A=0.789
1000GenomesSouth AsianSub978G=0.320A=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.190A=0.810
The Genome Aggregation DatabaseAfricanSub8604G=0.241A=0.759
The Genome Aggregation DatabaseAmericanSub832G=0.110A=0.890
The Genome Aggregation DatabaseEast AsianSub1612G=0.135A=0.865
The Genome Aggregation DatabaseEuropeSub18158G=0.215A=0.784
The Genome Aggregation DatabaseGlobalStudy-wide29504G=0.216A=0.783
The Genome Aggregation DatabaseOtherSub298G=0.280A=0.720
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.200A=0.800
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.191A=0.809
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
rs26099540.0001alcohol dependence20201924

eQTL of rs2609954 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:30871808LCLAT1ENSG00000172954.9G>A9.0207e-7201716Cortex

meQTL of rs2609954 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 )
chr23090269330902896E06730885
chr23090269330902896E06830885
chr23091177930912027E06939971
chr23091220530912725E06940397
chr23082701830827167E070-44641
chr23082814430828346E070-43462
chr23084879130849130E070-22678
chr23084923030849292E070-22516
chr23085004830850193E070-21615
chr23090269330902896E07030885
chr23090939330909507E07037585
chr23090956130909697E07037753
chr23090971230909786E07037904
chr23091127430911335E07039466
chr23091177930912027E07039971
chr23091220530912725E07040397
chr23090269330902896E07130885
chr23090269330902896E07330885
chr23091177930912027E07339971
chr23091220530912725E07340397
chr23091303530913126E07341227
chr23091316830913249E07341360
chr23091326630913362E07341458
chr23090171130901854E08129903
chr23090269330902896E08130885
chr23090694030907725E08135132
chr23091127430911335E08139466
chr23091177930912027E08139971
chr23091724630917336E08145438
chr23091752530917939E08145717
chr23082814430828346E082-43462
chr23090269330902896E08230885
chr23090694030907725E08235132
chr23091127430911335E08239466
chr23091177930912027E08239971
chr23091220530912725E08240397