rs1391665

Homo sapiens
T>C
CRYBG3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0444 (13268/29870,GnomAD)
C=0409 (11914/29118,TOPMED)
C=0461 (2310/5008,1000G)
T==0487 (1875/3854,ALSPAC)
T==0490 (1818/3708,TWINSUK)
chr3:97914893 (GRCh38.p7) (3q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.97914893T>C
GRCh37.p13 chr 3NC_000003.11:g.97633737T>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
1000GenomesAfricanSub1322T=0.800C=0.200
1000GenomesAmericanSub694T=0.500C=0.500
1000GenomesEast AsianSub1008T=0.321C=0.679
1000GenomesEuropeSub1006T=0.490C=0.510
1000GenomesGlobalStudy-wide5008T=0.539C=0.461
1000GenomesSouth AsianSub978T=0.490C=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.487C=0.513
The Genome Aggregation DatabaseAfricanSub8712T=0.761C=0.239
The Genome Aggregation DatabaseAmericanSub834T=0.440C=0.560
The Genome Aggregation DatabaseEast AsianSub1598T=0.322C=0.678
The Genome Aggregation DatabaseEuropeSub18424T=0.486C=0.513
The Genome Aggregation DatabaseGlobalStudy-wide29870T=0.555C=0.444
The Genome Aggregation DatabaseOtherSub302T=0.450C=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.590C=0.409
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.490C=0.510
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
rs13916650.000765alcohol dependence20201924

eQTL of rs1391665 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 rs1391665 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 )
chr39759071597591785E067-41952
chr39759071597591785E068-41952
chr39759180397591922E068-41815
chr39763670397637202E0682966
chr39766153097661581E06827793
chr39766174797662276E06828010
chr39759014697590300E069-43437
chr39759071597591785E069-41952
chr39760174997602433E069-31304
chr39759071597591785E072-41952
chr39760174997602433E072-31304
chr39759071597591785E074-41952
chr39759180397591922E074-41815
chr39760174997602433E074-31304
chr39760251197602561E074-31176
chr39766239797662447E07428660