rs196335

Homo sapiens
C>T
BAG3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0088 (2663/29950,GnomAD)
T=0102 (2995/29118,TOPMED)
T=0060 (300/5008,1000G)
T=0107 (414/3854,ALSPAC)
T=0107 (395/3708,TWINSUK)
chr10:119652349 (GRCh38.p7) (10q26.11)
AD
GWASdb2
1   publication(s)
See rs on genome
97 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.119652349C>T
GRCh37.p13 chr 10NC_000010.10:g.121411861C>T
BAG3 RefSeqGene LRG_742

Gene: BAG3, BCL2 associated athanogene 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
BAG3 transcriptNM_004281.3:c.N/AIntron Variant
BAG3 transcript variant X1XM_005270287.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.890T=0.110
1000GenomesAmericanSub694C=0.930T=0.070
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.913T=0.087
1000GenomesGlobalStudy-wide5008C=0.940T=0.060
1000GenomesSouth AsianSub978C=0.980T=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.893T=0.107
The Genome Aggregation DatabaseAfricanSub8706C=0.881T=0.119
The Genome Aggregation DatabaseAmericanSub836C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1620C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18486C=0.915T=0.084
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.911T=0.088
The Genome Aggregation DatabaseOtherSub302C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.897T=0.102
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.893T=0.107
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
rs1963350.00013alcohol dependence20201924

eQTL of rs196335 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 rs196335 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 )
chr10121367798121368230E067-43631
chr10121377723121377837E068-34024
chr10121377906121378701E068-33160
chr10121378827121378988E068-32873
chr10121418477121418696E0686616
chr10121418772121418888E0686911
chr10121418952121419058E0687091
chr10121420902121420979E0689041
chr10121426770121426855E06814909
chr10121426877121428647E06815016
chr10121439426121439595E06827565
chr10121439600121440032E06827739
chr10121440088121440536E06828227
chr10121440627121441023E06828766
chr10121441059121441181E06829198
chr10121441213121441345E06829352
chr10121441361121441509E06829500
chr10121441588121442232E06829727
chr10121452450121453396E06840589
chr10121416031121416834E0694170
chr10121416910121417612E0695049
chr10121417661121418425E0695800
chr10121418477121418696E0696616
chr10121426770121426855E06914909
chr10121426877121428647E06915016
chr10121445910121448145E06934049
chr10121452450121453396E06940589
chr10121377469121377569E071-34292
chr10121377723121377837E071-34024
chr10121377906121378701E071-33160
chr10121416910121417612E0715049
chr10121417661121418425E0715800
chr10121418477121418696E0716616
chr10121418772121418888E0716911
chr10121422886121423034E07111025
chr10121423228121424476E07111367
chr10121426293121426367E07114432
chr10121426770121426855E07114909
chr10121426877121428647E07115016
chr10121428670121428793E07116809
chr10121440088121440536E07128227
chr10121440627121441023E07128766
chr10121452450121453396E07140589
chr10121368613121368715E072-43146
chr10121368723121368823E072-43038
chr10121416910121417612E0725049
chr10121417661121418425E0725800
chr10121418477121418696E0726616
chr10121418772121418888E0726911
chr10121418952121419058E0727091
chr10121419244121419997E0727383
chr10121426877121428647E07215016
chr10121452249121452325E07240388
chr10121452450121453396E07240589
chr10121368436121368610E073-43251
chr10121416910121417612E0735049
chr10121417661121418425E0735800
chr10121418477121418696E0736616
chr10121418772121418888E0736911
chr10121418952121419058E0737091
chr10121419244121419997E0737383
chr10121425367121426273E07313506
chr10121426770121426855E07314909
chr10121426877121428647E07315016
chr10121428670121428793E07316809
chr10121439600121440032E07327739
chr10121440088121440536E07328227
chr10121440627121441023E07328766
chr10121452450121453396E07340589
chr10121368436121368610E074-43251
chr10121368613121368715E074-43146
chr10121368723121368823E074-43038
chr10121377723121377837E074-34024
chr10121377906121378701E074-33160
chr10121378827121378988E074-32873
chr10121379013121379189E074-32672
chr10121416910121417612E0745049
chr10121417661121418425E0745800
chr10121418477121418696E0746616
chr10121418772121418888E0746911
chr10121418952121419058E0747091
chr10121419244121419997E0747383
chr10121420902121420979E0749041
chr10121421244121421317E0749383
chr10121425367121426273E07413506
chr10121426770121426855E07414909
chr10121426877121428647E07415016
chr10121452450121453396E07440589
chr10121377723121377837E081-34024
chr10121377906121378701E081-33160
chr10121378827121378988E081-32873
chr10121379013121379189E081-32672
chr10121379254121379352E081-32509
chr10121377906121378701E082-33160
chr10121378827121378988E082-32873
chr10121379013121379189E082-32672
chr10121413966121414801E0822105









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10121409777121413161E0670
chr10121409777121413161E0680
chr10121409777121413161E0690
chr10121409777121413161E0700
chr10121409777121413161E0710
chr10121409777121413161E0720
chr10121409777121413161E0730
chr10121409777121413161E0740
chr10121409777121413161E0820