rs1848035

Homo sapiens
C>T
CRYBG3 : Intron Variant
LOC101929298 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0458 (13720/29920,GnomAD)
T=0432 (12591/29118,TOPMED)
T=0473 (2367/5008,1000G)
C==0486 (1874/3854,ALSPAC)
C==0489 (1815/3708,TWINSUK)
chr3:97823011 (GRCh38.p7) (3q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.97823011C>T
GRCh37.p13 chr 3NC_000003.11:g.97541855C>T

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

Gene: LOC101929298, uncharacterized LOC101929298(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC101929298 transcriptXR_427389.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.747T=0.253
1000GenomesAmericanSub694C=0.500T=0.500
1000GenomesEast AsianSub1008C=0.325T=0.675
1000GenomesEuropeSub1006C=0.492T=0.508
1000GenomesGlobalStudy-wide5008C=0.527T=0.473
1000GenomesSouth AsianSub978C=0.490T=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.486T=0.514
The Genome Aggregation DatabaseAfricanSub8710C=0.711T=0.289
The Genome Aggregation DatabaseAmericanSub838C=0.440T=0.560
The Genome Aggregation DatabaseEast AsianSub1610C=0.319T=0.681
The Genome Aggregation DatabaseEuropeSub18462C=0.487T=0.512
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.541T=0.458
The Genome Aggregation DatabaseOtherSub300C=0.450T=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.567T=0.432
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.489T=0.511
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
rs18480350.000981alcohol dependence20201924

eQTL of rs1848035 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 rs1848035 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 )
chr39754406897544211E0672213
chr39754424097544339E0672385
chr39754676397546840E0674908
chr39759071597591785E06748860
chr39754319397543337E0681338
chr39754343197543481E0681576
chr39754366597543715E0681810
chr39754380897543861E0681953
chr39754386397543974E0682008
chr39754406897544211E0682213
chr39754424097544339E0682385
chr39755701497557072E06815159
chr39755731697557530E06815461
chr39758149497581604E06839639
chr39758165697581714E06839801
chr39758181297581903E06839957
chr39758190797582242E06840052
chr39759071597591785E06848860
chr39754319397543337E0691338
chr39754366597543715E0691810
chr39754380897543861E0691953
chr39754386397543974E0692008
chr39754406897544211E0692213
chr39754424097544339E0692385
chr39754676397546840E0694908
chr39755880497558854E06916949
chr39759014697590300E06948291
chr39759071597591785E06948860
chr39753571197535976E070-5879
chr39754319397543337E0711338
chr39754343197543481E0711576
chr39754366597543715E0711810
chr39754380897543861E0711953
chr39754386397543974E0712008
chr39754406897544211E0712213
chr39754424097544339E0712385
chr39754676397546840E0714908
chr39754957297549758E0717717
chr39754984197549916E0717986
chr39754366597543715E0721810
chr39754380897543861E0721953
chr39754386397543974E0722008
chr39754406897544211E0722213
chr39754424097544339E0722385
chr39755903497559084E07217179
chr39759071597591785E07248860
chr39753982997539940E073-1915
chr39754676397546840E0734908
chr39754343197543481E0741576
chr39754366597543715E0741810
chr39754380897543861E0741953
chr39754386397543974E0742008
chr39754406897544211E0742213
chr39754424097544339E0742385
chr39754676397546840E0744908
chr39755880497558854E07416949
chr39759071597591785E07448860
chr39753982997539940E081-1915









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr39753999797541749E067-106
chr39754175297541958E0670
chr39754196697542798E067111
chr39754291197542961E0671056
chr39753999797541749E068-106
chr39754175297541958E0680
chr39754196697542798E068111
chr39754291197542961E0681056
chr39753999797541749E069-106
chr39754175297541958E0690
chr39754196697542798E069111
chr39754291197542961E0691056
chr39753999797541749E071-106
chr39754175297541958E0710
chr39754196697542798E071111
chr39754291197542961E0711056
chr39753999797541749E072-106
chr39754175297541958E0720
chr39754196697542798E072111
chr39754291197542961E0721056
chr39753999797541749E073-106
chr39754175297541958E0730
chr39754196697542798E073111
chr39754291197542961E0731056
chr39753999797541749E074-106
chr39754175297541958E0740
chr39754196697542798E074111
chr39754291197542961E0741056
chr39753999797541749E081-106
chr39754196697542798E081111
chr39753999797541749E082-106
chr39754175297541958E0820