rs4857068

Homo sapiens
C>A
CRYBG3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0444 (13286/29904,GnomAD)
A=0408 (11907/29118,TOPMED)
A=0460 (2302/5008,1000G)
C==0487 (1878/3854,ALSPAC)
C==0491 (1821/3708,TWINSUK)
chr3:97903853 (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.97903853C>A
GRCh37.p13 chr 3NC_000003.11:g.97622697C>A

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
1000GenomesAfricanSub1322C=0.801A=0.199
1000GenomesAmericanSub694C=0.500A=0.500
1000GenomesEast AsianSub1008C=0.322A=0.678
1000GenomesEuropeSub1006C=0.491A=0.509
1000GenomesGlobalStudy-wide5008C=0.540A=0.460
1000GenomesSouth AsianSub978C=0.490A=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.487A=0.513
The Genome Aggregation DatabaseAfricanSub8710C=0.761A=0.239
The Genome Aggregation DatabaseAmericanSub836C=0.440A=0.560
The Genome Aggregation DatabaseEast AsianSub1602C=0.322A=0.678
The Genome Aggregation DatabaseEuropeSub18454C=0.486A=0.513
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.555A=0.444
The Genome Aggregation DatabaseOtherSub302C=0.450A=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.591A=0.408
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.491A=0.509
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
rs48570680.000807alcohol dependence20201924

eQTL of rs4857068 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 rs4857068 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 )
chr39759071597591785E067-30912
chr39758149497581604E068-41093
chr39758165697581714E068-40983
chr39758181297581903E068-40794
chr39758190797582242E068-40455
chr39759071597591785E068-30912
chr39759180397591922E068-30775
chr39763670397637202E06814006
chr39766153097661581E06838833
chr39766174797662276E06839050
chr39759014697590300E069-32397
chr39759071597591785E069-30912
chr39760174997602433E069-20264
chr39759071597591785E072-30912
chr39760174997602433E072-20264
chr39759071597591785E074-30912
chr39759180397591922E074-30775
chr39760174997602433E074-20264
chr39760251197602561E074-20136
chr39766239797662447E07439700