rs1451995

Homo sapiens
G>C
SNX16 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0343 (10266/29904,GnomAD)
C=0360 (10492/29118,TOPMED)
C=0397 (1986/5008,1000G)
C=0333 (1283/3854,ALSPAC)
C=0320 (1188/3708,TWINSUK)
chr8:81833888 (GRCh38.p7) (8q21.13)
AD
GWASdb2
1   publication(s)
See rs on genome
94 Enhancers around
39 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.81833888G>C
GRCh37.p13 chr 8NC_000008.10:g.82746123G>C

Gene: SNX16, sorting nexin 16(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SNX16 transcript variant 1NM_022133.3:c.N/AIntron Variant
SNX16 transcript variant 2NM_152836.2:c.N/AIntron Variant
SNX16 transcript variant 3NM_152837.2:c.N/AIntron Variant
SNX16 transcript variant X1XM_005251282.4:c.N/AIntron Variant
SNX16 transcript variant X2XM_005251283.2:c.N/AIntron Variant
SNX16 transcript variant X3XM_011517574.2:c.N/AGenic Upstream Transcript Variant
SNX16 transcript variant X3XR_001745572.1:n.N/AIntron Variant
SNX16 transcript variant X5XR_001745573.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.625C=0.375
1000GenomesAmericanSub694G=0.610C=0.390
1000GenomesEast AsianSub1008G=0.403C=0.597
1000GenomesEuropeSub1006G=0.673C=0.327
1000GenomesGlobalStudy-wide5008G=0.603C=0.397
1000GenomesSouth AsianSub978G=0.710C=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.667C=0.333
The Genome Aggregation DatabaseAfricanSub8692G=0.634C=0.366
The Genome Aggregation DatabaseAmericanSub838G=0.680C=0.320
The Genome Aggregation DatabaseEast AsianSub1614G=0.369C=0.631
The Genome Aggregation DatabaseEuropeSub18458G=0.692C=0.307
The Genome Aggregation DatabaseGlobalStudy-wide29904G=0.656C=0.343
The Genome Aggregation DatabaseOtherSub302G=0.630C=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.639C=0.360
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.680C=0.320
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs14519953.44E-05alcohol consumption23743675

eQTL of rs1451995 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 rs1451995 in Fetal Brain

Probe ID Position Gene beta p-value
cg17211192chr8:82754475SNX160.06482078975211631.1897e-26
cg27398817chr8:82754497SNX160.03831897822715894.2717e-15
cg23324259chr8:82754387SNX160.01768749997089576.1498e-14

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 )
chr88272692182727044E067-19079
chr88272708482727145E067-18978
chr88272739782727713E067-18410
chr88275141582751459E0675292
chr88275155182751632E0675428
chr88275169382751743E0675570
chr88275176982751905E0675646
chr88275192082751978E0675797
chr88275205182752101E0675928
chr88275213682752286E0676013
chr88275242482752500E0676301
chr88275252382752586E0676400
chr88274913582749745E0683012
chr88275040382750493E0684280
chr88275055782750622E0684434
chr88275073382750913E0684610
chr88275118682751259E0685063
chr88275141582751459E0685292
chr88275155182751632E0685428
chr88275169382751743E0685570
chr88275242482752500E0686301
chr88275252382752586E0686400
chr88275264882752702E0686525
chr88275205182752101E0695928
chr88275213682752286E0696013
chr88275242482752500E0696301
chr88275252382752586E0696400
chr88275264882752702E0696525
chr88270876682709232E070-36891
chr88270927582709325E070-36798
chr88270935482709440E070-36683
chr88273635982736422E070-9701
chr88273760682737656E070-8467
chr88273770482737783E070-8340
chr88274913582749745E0703012
chr88272692182727044E071-19079
chr88272739782727713E071-18410
chr88275040382750493E0714280
chr88275055782750622E0714434
chr88275073382750913E0714610
chr88275176982751905E0715646
chr88275192082751978E0715797
chr88275205182752101E0715928
chr88275213682752286E0716013
chr88275242482752500E0716301
chr88275252382752586E0716400
chr88275264882752702E0716525
chr88277068982771569E07124566
chr88278429982784817E07138176
chr88272629482726439E072-19684
chr88272692182727044E072-19079
chr88272708482727145E072-18978
chr88272739782727713E072-18410
chr88272739782727713E073-18410
chr88272692182727044E074-19079
chr88275040382750493E0744280
chr88275055782750622E0744434
chr88275073382750913E0744610
chr88275118682751259E0745063
chr88275141582751459E0745292
chr88275155182751632E0745428
chr88275169382751743E0745570
chr88275176982751905E0745646
chr88275192082751978E0745797
chr88275205182752101E0745928
chr88275213682752286E0746013
chr88275242482752500E0746301
chr88275252382752586E0746400
chr88275264882752702E0746525
chr88278429982784817E07438176
chr88274894182748991E0812818
chr88275118682751259E0815063
chr88275141582751459E0815292
chr88275155182751632E0815428
chr88275169382751743E0815570
chr88275176982751905E0815646
chr88275192082751978E0815797
chr88275205182752101E0815928
chr88275213682752286E0816013
chr88275242482752500E0816301
chr88275252382752586E0816400
chr88275264882752702E0816525
chr88269939382699447E082-46676
chr88269957982699654E082-46469
chr88274913582749745E0823012
chr88274982582749873E0823702
chr88275155182751632E0825428
chr88275169382751743E0825570
chr88275176982751905E0825646
chr88275192082751978E0825797
chr88275205182752101E0825928
chr88275213682752286E0826013
chr88275242482752500E0826301
chr88275252382752586E0826400










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr88275290282753069E0676779
chr88275314082753307E0677017
chr88275349982753591E0677376
chr88275360282754599E0677479
chr88275349982753591E0687376
chr88275360282754599E0687479
chr88275461982755486E0688496
chr88275290282753069E0696779
chr88275314082753307E0697017
chr88275349982753591E0697376
chr88275360282754599E0697479
chr88275290282753069E0706779
chr88275314082753307E0707017
chr88275349982753591E0707376
chr88275360282754599E0707479
chr88275290282753069E0716779
chr88275314082753307E0717017
chr88275349982753591E0717376
chr88275360282754599E0717479
chr88275461982755486E0718496
chr88275290282753069E0726779
chr88275314082753307E0727017
chr88275349982753591E0727376
chr88275360282754599E0727479
chr88275290282753069E0736779
chr88275314082753307E0737017
chr88275349982753591E0737376
chr88275360282754599E0737479
chr88275461982755486E0738496
chr88275314082753307E0747017
chr88275349982753591E0747376
chr88275360282754599E0747479
chr88275461982755486E0748496
chr88275360282754599E0817479
chr88275290282753069E0826779
chr88275314082753307E0827017
chr88275349982753591E0827376
chr88275360282754599E0827479
chr88275461982755486E0828496