rs699300

Homo sapiens
G>A
CRYBG3 : Intron Variant
LOC105373994 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0049 (1471/29982,GnomAD)
G==0054 (1588/29118,TOPMED)
G==0039 (196/5008,1000G)
G==0088 (339/3854,ALSPAC)
G==0093 (345/3708,TWINSUK)
chr3:97847729 (GRCh38.p7) (3q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
64 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.97847729G>A
GRCh37.p13 chr 3NC_000003.11:g.97566573G>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

Gene: LOC105373994, uncharacterized LOC105373994(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373994 transcript variant X1XR_001740811.1:n.N/AIntron Variant
LOC105373994 transcript variant X2XR_001740812.1:n.N/AGenic Downstream Transcript Variant
LOC105373994 transcript variant X3XR_001740813.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.006A=0.994
1000GenomesAmericanSub694G=0.090A=0.910
1000GenomesEast AsianSub1008G=0.000A=1.000
1000GenomesEuropeSub1006G=0.102A=0.898
1000GenomesGlobalStudy-wide5008G=0.039A=0.961
1000GenomesSouth AsianSub978G=0.030A=0.970
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.088A=0.912
The Genome Aggregation DatabaseAfricanSub8730G=0.016A=0.984
The Genome Aggregation DatabaseAmericanSub838G=0.050A=0.950
The Genome Aggregation DatabaseEast AsianSub1618G=0.001A=0.999
The Genome Aggregation DatabaseEuropeSub18494G=0.068A=0.931
The Genome Aggregation DatabaseGlobalStudy-wide29982G=0.049A=0.950
The Genome Aggregation DatabaseOtherSub302G=0.080A=0.920
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.054A=0.945
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.093A=0.907
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs6993000.000874alcohol dependence21314694

eQTL of rs699300 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 rs699300 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 )
chr39754406897544211E067-22362
chr39754424097544339E067-22234
chr39754676397546840E067-19733
chr39759071597591785E06724142
chr39754319397543337E068-23236
chr39754343197543481E068-23092
chr39754366597543715E068-22858
chr39754380897543861E068-22712
chr39754386397543974E068-22599
chr39754406897544211E068-22362
chr39754424097544339E068-22234
chr39755701497557072E068-9501
chr39755731697557530E068-9043
chr39758149497581604E06814921
chr39758165697581714E06815083
chr39758181297581903E06815239
chr39758190797582242E06815334
chr39759071597591785E06824142
chr39759180397591922E06825230
chr39754319397543337E069-23236
chr39754366597543715E069-22858
chr39754380897543861E069-22712
chr39754386397543974E069-22599
chr39754406897544211E069-22362
chr39754424097544339E069-22234
chr39754676397546840E069-19733
chr39755880497558854E069-7719
chr39759014697590300E06923573
chr39759071597591785E06924142
chr39760174997602433E06935176
chr39753571197535976E070-30597
chr39754319397543337E071-23236
chr39754343197543481E071-23092
chr39754366597543715E071-22858
chr39754380897543861E071-22712
chr39754386397543974E071-22599
chr39754406897544211E071-22362
chr39754424097544339E071-22234
chr39754676397546840E071-19733
chr39754957297549758E071-16815
chr39754984197549916E071-16657
chr39754366597543715E072-22858
chr39754380897543861E072-22712
chr39754386397543974E072-22599
chr39754406897544211E072-22362
chr39754424097544339E072-22234
chr39755903497559084E072-7489
chr39759071597591785E07224142
chr39760174997602433E07235176
chr39753982997539940E073-26633
chr39754676397546840E073-19733
chr39754343197543481E074-23092
chr39754366597543715E074-22858
chr39754380897543861E074-22712
chr39754386397543974E074-22599
chr39754406897544211E074-22362
chr39754424097544339E074-22234
chr39754676397546840E074-19733
chr39755880497558854E074-7719
chr39759071597591785E07424142
chr39759180397591922E07425230
chr39760174997602433E07435176
chr39760251197602561E07435938
chr39753982997539940E081-26633









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr39753999797541749E067-24824
chr39754175297541958E067-24615
chr39754196697542798E067-23775
chr39754291197542961E067-23612
chr39753999797541749E068-24824
chr39754175297541958E068-24615
chr39754196697542798E068-23775
chr39754291197542961E068-23612
chr39753999797541749E069-24824
chr39754175297541958E069-24615
chr39754196697542798E069-23775
chr39754291197542961E069-23612
chr39753999797541749E071-24824
chr39754175297541958E071-24615
chr39754196697542798E071-23775
chr39754291197542961E071-23612
chr39753999797541749E072-24824
chr39754175297541958E072-24615
chr39754196697542798E072-23775
chr39754291197542961E072-23612
chr39753999797541749E073-24824
chr39754175297541958E073-24615
chr39754196697542798E073-23775
chr39754291197542961E073-23612
chr39753999797541749E074-24824
chr39754175297541958E074-24615
chr39754196697542798E074-23775
chr39754291197542961E074-23612
chr39753999797541749E081-24824
chr39754196697542798E081-23775
chr39753999797541749E082-24824
chr39754175297541958E082-24615