rs1370465

Homo sapiens
G>A
SOX6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0277 (8276/29834,GnomAD)
A=0222 (6480/29118,TOPMED)
A=0181 (907/5008,1000G)
A=0385 (1484/3854,ALSPAC)
A=0388 (1439/3708,TWINSUK)
chr11:16372522 (GRCh38.p7) (11p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
74 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.16372522G>A
GRCh37.p13 chr 11NC_000011.9:g.16394068G>A
SOX6 RefSeqGeneNG_012881.1:g.108868C>T

Gene: SOX6, SRY-box 6(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SOX6 transcript variant 3NM_001145811.1:c.N/AIntron Variant
SOX6 transcript variant 4NM_001145819.1:c.N/AIntron Variant
SOX6 transcript variant 1NM_017508.2:c.N/AIntron Variant
SOX6 transcript variant 2NM_033326.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.976A=0.024
1000GenomesAmericanSub694G=0.760A=0.240
1000GenomesEast AsianSub1008G=0.898A=0.102
1000GenomesEuropeSub1006G=0.610A=0.390
1000GenomesGlobalStudy-wide5008G=0.819A=0.181
1000GenomesSouth AsianSub978G=0.780A=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.615A=0.385
The Genome Aggregation DatabaseAfricanSub8710G=0.932A=0.068
The Genome Aggregation DatabaseAmericanSub832G=0.780A=0.220
The Genome Aggregation DatabaseEast AsianSub1594G=0.896A=0.104
The Genome Aggregation DatabaseEuropeSub18398G=0.608A=0.391
The Genome Aggregation DatabaseGlobalStudy-wide29834G=0.722A=0.277
The Genome Aggregation DatabaseOtherSub300G=0.550A=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.777A=0.222
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.612A=0.388
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
rs13704650.00041alcohol dependence20201924

eQTL of rs1370465 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 rs1370465 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 )
chr111637750016377554E067-16514
chr111637761816377865E067-16203
chr111637787216379279E067-14789
chr111642420716424321E06730139
chr111642434416425205E06730276
chr111642521016425392E06731142
chr111642553016425656E06731462
chr111637937916379650E068-14418
chr111638665616386706E068-7362
chr111638674616388226E068-5842
chr111642521016425392E06831142
chr111642698316427265E06832915
chr111637750016377554E069-16514
chr111637761816377865E069-16203
chr111637787216379279E069-14789
chr111634857716348784E070-45284
chr111636830216368858E070-25210
chr111637513416375359E070-18709
chr111637787216379279E070-14789
chr111637937916379650E070-14418
chr111638665616386706E070-7362
chr111638674616388226E070-5842
chr111641462116414720E07020553
chr111641503716415153E07020969
chr111642521016425392E07031142
chr111642632716426377E07032259
chr111642638116426605E07032313
chr111642661516426698E07032547
chr111642688616426963E07032818
chr111642698316427265E07032915
chr111643871216439091E07044644
chr111637787216379279E071-14789
chr111642393316424171E07129865
chr111642420716424321E07130139
chr111642521016425392E07131142
chr111642553016425656E07131462
chr111642590116425965E07131833
chr111642612016426180E07132052
chr111642632716426377E07132259
chr111642638116426605E07132313
chr111642661516426698E07132547
chr111642688616426963E07132818
chr111642698316427265E07132915
chr111637750016377554E072-16514
chr111637761816377865E072-16203
chr111637787216379279E072-14789
chr111642521016425392E07231142
chr111642553016425656E07231462
chr111642688616426963E07232818
chr111637750016377554E074-16514
chr111637761816377865E074-16203
chr111637787216379279E074-14789
chr111642335916423409E07429291
chr111642353316423583E07429465
chr111642375816423847E07429690
chr111642393316424171E07429865
chr111642420716424321E07430139
chr111642434416425205E07430276
chr111642612016426180E07432052
chr111642632716426377E07432259
chr111642638116426605E07432313
chr111642661516426698E07432547
chr111642688616426963E07432818
chr111642698316427265E07432915
chr111638665616386706E081-7362
chr111638674616388226E081-5842
chr111638832616388389E081-5679
chr111638881716389159E081-4909
chr111642638116426605E08132313
chr111642661516426698E08132547
chr111643871216439091E08144644
chr111638665616386706E082-7362
chr111638674616388226E082-5842
chr111643871216439091E08244644