rs6786354

Homo sapiens
G>A
CRYBG3 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0459 (13744/29900,GnomAD)
A=0432 (12603/29118,TOPMED)
A=0475 (2381/5008,1000G)
G==0486 (1874/3854,ALSPAC)
G==0490 (1816/3708,TWINSUK)
chr3:97876535 (GRCh38.p7) (3q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.97876535G>A
GRCh37.p13 chr 3NC_000003.11:g.97595379G>A

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

Molecule type Change Amino acid[Codon] SO Term
CRYBG3 transcriptNM_153605.3:c.534...NM_153605.3:c.5341G>AV [GTG]> M [ATG]Coding Sequence Variant
very large A-kinase anchor proteinNP_705833.3:p.Val...NP_705833.3:p.Val1781MetV [Val]> M [Met]Missense Variant
CRYBG3 transcript variant X1XM_005247117.4:c....XM_005247117.4:c.4468G>AV [GTG]> M [ATG]Coding Sequence Variant
very large A-kinase anchor protein isoform X1XP_005247174.1:p....XP_005247174.1:p.Val1490MetV [Val]> M [Met]Missense Variant
CRYBG3 transcript variant X2XR_001740014.1:n....XR_001740014.1:n.5618G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.740A=0.260
1000GenomesAmericanSub694G=0.500A=0.500
1000GenomesEast AsianSub1008G=0.328A=0.672
1000GenomesEuropeSub1006G=0.490A=0.510
1000GenomesGlobalStudy-wide5008G=0.525A=0.475
1000GenomesSouth AsianSub978G=0.490A=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.486A=0.514
The Genome Aggregation DatabaseAfricanSub8698G=0.707A=0.293
The Genome Aggregation DatabaseAmericanSub836G=0.440A=0.560
The Genome Aggregation DatabaseEast AsianSub1614G=0.325A=0.675
The Genome Aggregation DatabaseEuropeSub18450G=0.486A=0.513
The Genome Aggregation DatabaseGlobalStudy-wide29900G=0.540A=0.459
The Genome Aggregation DatabaseOtherSub302G=0.450A=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.567A=0.432
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.490A=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
rs67863540.000604alcohol dependence20201924

eQTL of rs6786354 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 rs6786354 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 )
chr39754676397546840E067-48539
chr39759071597591785E067-3594
chr39755701497557072E068-38307
chr39755731697557530E068-37849
chr39758149497581604E068-13775
chr39758165697581714E068-13665
chr39758181297581903E068-13476
chr39758190797582242E068-13137
chr39759071597591785E068-3594
chr39759180397591922E068-3457
chr39763670397637202E06841324
chr39754676397546840E069-48539
chr39755880497558854E069-36525
chr39759014697590300E069-5079
chr39759071597591785E069-3594
chr39760174997602433E0696370
chr39754676397546840E071-48539
chr39754957297549758E071-45621
chr39754984197549916E071-45463
chr39755903497559084E072-36295
chr39759071597591785E072-3594
chr39760174997602433E0726370
chr39754676397546840E073-48539
chr39754676397546840E074-48539
chr39755880497558854E074-36525
chr39759071597591785E074-3594
chr39759180397591922E074-3457
chr39760174997602433E0746370
chr39760251197602561E0747132