rs10808154

Homo sapiens
G>A
CBLL1 : Intron Variant
LOC101927974 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0219 (6559/29892,GnomAD)
A=0159 (4629/29118,TOPMED)
A=0260 (1302/5008,1000G)
A=0241 (930/3854,ALSPAC)
A=0252 (936/3708,TWINSUK)
chr7:107745951 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107745951G>A
GRCh37.p13 chr 7NC_000007.13:g.107386396G>A

Gene: CBLL1, Cbl proto-oncogene like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CBLL1 transcript variant 3NM_001284291.1:c.N/AIntron Variant
CBLL1 transcript variant 1NM_024814.3:c.N/AIntron Variant
CBLL1 transcript variant 2NR_024199.2:n.N/AIntron Variant
CBLL1 transcript variant X3XM_011516580.2:c.N/AIntron Variant
CBLL1 transcript variant X1XM_017012643.1:c.N/AIntron Variant
CBLL1 transcript variant X6XM_017012644.1:c.N/AIntron Variant
CBLL1 transcript variant X8XM_017012645.1:c.N/AIntron Variant

Gene: LOC101927974, uncharacterized LOC101927974(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC101927974 transcript variant X1XR_927849.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.983A=0.017
1000GenomesAmericanSub694G=0.720A=0.280
1000GenomesEast AsianSub1008G=0.646A=0.354
1000GenomesEuropeSub1006G=0.736A=0.264
1000GenomesGlobalStudy-wide5008G=0.740A=0.260
1000GenomesSouth AsianSub978G=0.530A=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.759A=0.241
The Genome Aggregation DatabaseAfricanSub8714G=0.947A=0.053
The Genome Aggregation DatabaseAmericanSub836G=0.690A=0.310
The Genome Aggregation DatabaseEast AsianSub1606G=0.625A=0.375
The Genome Aggregation DatabaseEuropeSub18436G=0.719A=0.280
The Genome Aggregation DatabaseGlobalStudy-wide29892G=0.780A=0.219
The Genome Aggregation DatabaseOtherSub300G=0.780A=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.841A=0.159
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.748A=0.252
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs108081548.33E-05alcohol consumption23743675

eQTL of rs10808154 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107386396AC002467.7ENSG00000241764.3G>A1.1747e-41515Cerebellum
Chr7:107386396AC002467.7ENSG00000241764.3G>A2.1985e-51515Frontal_Cortex_BA9
Chr7:107386396AC002467.7ENSG00000241764.3G>A1.0521e-41515Cortex
Chr7:107386396AC002467.7ENSG00000241764.3G>A4.1131e-51515Cerebellar_Hemisphere
Chr7:107386396AC002467.7ENSG00000241764.3G>A4.3055e-31515Caudate_basal_ganglia
Chr7:107386396AC002467.7ENSG00000241764.3G>A2.6099e-41515Anterior_cingulate_cortex
Chr7:107386396AC002467.7ENSG00000241764.3G>A1.0776e-31515Nucleus_accumbens_basal_ganglia

meQTL of rs10808154 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 )
chr7107383023107383099E067-3297
chr7107386669107386772E067273
chr7107387624107387709E0671228
chr7107387798107387880E0671402
chr7107341168107341256E068-45140
chr7107341276107341497E068-44899
chr7107382753107382818E068-3578
chr7107386669107386772E068273
chr7107387624107387709E0681228
chr7107387798107387880E0681402
chr7107387932107387978E0681536
chr7107388350107388400E0681954
chr7107337294107337374E069-49022
chr7107337495107337545E069-48851
chr7107383023107383099E069-3297
chr7107386669107386772E069273
chr7107387624107387709E0691228
chr7107387798107387880E0691402
chr7107387932107387978E0691536
chr7107337495107337545E070-48851
chr7107337639107338679E070-47717
chr7107383023107383099E070-3297
chr7107386669107386772E070273
chr7107387798107387880E0701402
chr7107387932107387978E0701536
chr7107388350107388400E0701954
chr7107337495107337545E071-48851
chr7107337639107338679E071-47717
chr7107383023107383099E071-3297
chr7107337639107338679E072-47717
chr7107383023107383099E072-3297
chr7107386669107386772E072273
chr7107337639107338679E073-47717
chr7107337639107338679E081-47717
chr7107338996107339076E081-47320
chr7107337294107337374E082-49022
chr7107337495107337545E082-48851
chr7107337639107338679E082-47717
chr7107386669107386772E082273
chr7107387798107387880E0821402
chr7107387932107387978E0821536
chr7107388350107388400E0821954









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E067-871
chr7107383118107385525E068-871
chr7107383118107385525E069-871
chr7107383118107385525E070-871
chr7107383118107385525E071-871
chr7107383118107385525E072-871
chr7107383118107385525E073-871
chr7107383118107385525E074-871
chr7107383118107385525E081-871
chr7107383118107385525E082-871