rs654499

Homo sapiens
C>A / C>T
ENDOD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0379 (11335/29908,GnomAD)
A=0307 (8966/29118,TOPMED)
A=0387 (1939/5008,1000G)
A=0431 (1660/3854,ALSPAC)
A=0432 (1601/3708,TWINSUK)
chr11:95110343 (GRCh38.p7) (11q21)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.95110343C>A
GRCh38.p7 chr 11NC_000011.10:g.95110343C>T
GRCh37.p13 chr 11 fix patch HG348_PATCHNW_003871079.1:g.231664C>A
GRCh37.p13 chr 11 fix patch HG348_PATCHNW_003871079.1:g.231664C>T
GRCh37.p13 chr 11NC_000011.9:g.94843507C>A
GRCh37.p13 chr 11NC_000011.9:g.94843507C>T

Gene: ENDOD1, endonuclease domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ENDOD1 transcriptNM_015036.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.890A=0.110
1000GenomesAmericanSub694C=0.540A=0.460
1000GenomesEast AsianSub1008C=0.297A=0.703
1000GenomesEuropeSub1006C=0.539A=0.461
1000GenomesGlobalStudy-wide5008C=0.613A=0.387
1000GenomesSouth AsianSub978C=0.690A=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.569A=0.431
The Genome Aggregation DatabaseAfricanSub8720C=0.846A=0.154
The Genome Aggregation DatabaseAmericanSub838C=0.490A=0.510
The Genome Aggregation DatabaseEast AsianSub1608C=0.361A=0.639
The Genome Aggregation DatabaseEuropeSub18442C=0.544A=0.456
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.621A=0.379
The Genome Aggregation DatabaseOtherSub300C=0.580A=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.692A=0.307
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.568A=0.432
PMID Title Author Journal
22488850Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.Zuo LAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs6544995.8E-06alcohol and nictotine co-dependence22488850

eQTL of rs654499 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 rs654499 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.