rs1498652

Homo sapiens
A>C
CRYBG3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0456 (13660/29908,GnomAD)
C=0430 (12522/29118,TOPMED)
C=0473 (2371/5008,1000G)
A==0489 (1883/3854,ALSPAC)
A==0492 (1823/3708,TWINSUK)
chr3:97901684 (GRCh38.p7) (3q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.97901684A>C
GRCh37.p13 chr 3NC_000003.11:g.97620528A>C

Gene: CRYBG3, crystallin beta-gamma domain containing 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CRYBG3 transcriptNM_153605.3:c.N/AIntron Variant
CRYBG3 transcript variant X1XM_005247117.4:c.N/AIntron Variant
CRYBG3 transcript variant X2XR_001740014.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.753C=0.247
1000GenomesAmericanSub694A=0.500C=0.500
1000GenomesEast AsianSub1008A=0.320C=0.680
1000GenomesEuropeSub1006A=0.490C=0.510
1000GenomesGlobalStudy-wide5008A=0.527C=0.473
1000GenomesSouth AsianSub978A=0.490C=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.489C=0.511
The Genome Aggregation DatabaseAfricanSub8700A=0.718C=0.282
The Genome Aggregation DatabaseAmericanSub838A=0.440C=0.560
The Genome Aggregation DatabaseEast AsianSub1606A=0.323C=0.677
The Genome Aggregation DatabaseEuropeSub18462A=0.486C=0.513
The Genome Aggregation DatabaseGlobalStudy-wide29908A=0.543C=0.456
The Genome Aggregation DatabaseOtherSub302A=0.450C=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.570C=0.430
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.492C=0.508
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
rs14986520.000488alcohol dependence20201924

eQTL of rs1498652 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 rs1498652 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 )
chr39759071597591785E067-28743
chr39758149497581604E068-38924
chr39758165697581714E068-38814
chr39758181297581903E068-38625
chr39758190797582242E068-38286
chr39759071597591785E068-28743
chr39759180397591922E068-28606
chr39763670397637202E06816175
chr39766153097661581E06841002
chr39766174797662276E06841219
chr39759014697590300E069-30228
chr39759071597591785E069-28743
chr39760174997602433E069-18095
chr39759071597591785E072-28743
chr39760174997602433E072-18095
chr39759071597591785E074-28743
chr39759180397591922E074-28606
chr39760174997602433E074-18095
chr39760251197602561E074-17967
chr39766239797662447E07441869