rs12544174

Homo sapiens
G>A
SNX16 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0343 (10271/29878,GnomAD)
G==0360 (10503/29118,TOPMED)
G==0397 (1988/5008,1000G)
G==0333 (1283/3854,ALSPAC)
G==0320 (1187/3708,TWINSUK)
chr8:81819242 (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.81819242G>A
GRCh37.p13 chr 8NC_000008.10:g.82731477G>A

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/AIntron 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=0.376A=0.624
1000GenomesAmericanSub694G=0.390A=0.610
1000GenomesEast AsianSub1008G=0.597A=0.403
1000GenomesEuropeSub1006G=0.327A=0.673
1000GenomesGlobalStudy-wide5008G=0.397A=0.603
1000GenomesSouth AsianSub978G=0.290A=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.333A=0.667
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.360A=0.639
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.320A=0.680
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
rs125441743.38E-05alcohol consumption23743675

eQTL of rs12544174 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 rs12544174 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 )
chr88272692182727044E067-4433
chr88272708482727145E067-4332
chr88272739782727713E067-3764
chr88275141582751459E06719938
chr88275155182751632E06720074
chr88275169382751743E06720216
chr88275176982751905E06720292
chr88275192082751978E06720443
chr88275205182752101E06720574
chr88275213682752286E06720659
chr88275242482752500E06720947
chr88275252382752586E06721046
chr88274913582749745E06817658
chr88275040382750493E06818926
chr88275055782750622E06819080
chr88275073382750913E06819256
chr88275118682751259E06819709
chr88275141582751459E06819938
chr88275155182751632E06820074
chr88275169382751743E06820216
chr88275242482752500E06820947
chr88275252382752586E06821046
chr88275264882752702E06821171
chr88275205182752101E06920574
chr88275213682752286E06920659
chr88275242482752500E06920947
chr88275252382752586E06921046
chr88275264882752702E06921171
chr88270876682709232E070-22245
chr88270927582709325E070-22152
chr88270935482709440E070-22037
chr88273635982736422E0704882
chr88273760682737656E0706129
chr88273770482737783E0706227
chr88274913582749745E07017658
chr88272692182727044E071-4433
chr88272739782727713E071-3764
chr88275040382750493E07118926
chr88275055782750622E07119080
chr88275073382750913E07119256
chr88275176982751905E07120292
chr88275192082751978E07120443
chr88275205182752101E07120574
chr88275213682752286E07120659
chr88275242482752500E07120947
chr88275252382752586E07121046
chr88275264882752702E07121171
chr88277068982771569E07139212
chr88269268482693377E072-38100
chr88272629482726439E072-5038
chr88272692182727044E072-4433
chr88272708482727145E072-4332
chr88272739782727713E072-3764
chr88272739782727713E073-3764
chr88272692182727044E074-4433
chr88275040382750493E07418926
chr88275055782750622E07419080
chr88275073382750913E07419256
chr88275118682751259E07419709
chr88275141582751459E07419938
chr88275155182751632E07420074
chr88275169382751743E07420216
chr88275176982751905E07420292
chr88275192082751978E07420443
chr88275205182752101E07420574
chr88275213682752286E07420659
chr88275242482752500E07420947
chr88275252382752586E07421046
chr88275264882752702E07421171
chr88269268482693377E081-38100
chr88274894182748991E08117464
chr88275118682751259E08119709
chr88275141582751459E08119938
chr88275155182751632E08120074
chr88275169382751743E08120216
chr88275176982751905E08120292
chr88275192082751978E08120443
chr88275205182752101E08120574
chr88275213682752286E08120659
chr88275242482752500E08120947
chr88275252382752586E08121046
chr88275264882752702E08121171
chr88269939382699447E082-32030
chr88269957982699654E082-31823
chr88274913582749745E08217658
chr88274982582749873E08218348
chr88275155182751632E08220074
chr88275169382751743E08220216
chr88275176982751905E08220292
chr88275192082751978E08220443
chr88275205182752101E08220574
chr88275213682752286E08220659
chr88275242482752500E08220947
chr88275252382752586E08221046










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr88275290282753069E06721425
chr88275314082753307E06721663
chr88275349982753591E06722022
chr88275360282754599E06722125
chr88275349982753591E06822022
chr88275360282754599E06822125
chr88275461982755486E06823142
chr88275290282753069E06921425
chr88275314082753307E06921663
chr88275349982753591E06922022
chr88275360282754599E06922125
chr88275290282753069E07021425
chr88275314082753307E07021663
chr88275349982753591E07022022
chr88275360282754599E07022125
chr88275290282753069E07121425
chr88275314082753307E07121663
chr88275349982753591E07122022
chr88275360282754599E07122125
chr88275461982755486E07123142
chr88275290282753069E07221425
chr88275314082753307E07221663
chr88275349982753591E07222022
chr88275360282754599E07222125
chr88275290282753069E07321425
chr88275314082753307E07321663
chr88275349982753591E07322022
chr88275360282754599E07322125
chr88275461982755486E07323142
chr88275314082753307E07421663
chr88275349982753591E07422022
chr88275360282754599E07422125
chr88275461982755486E07423142
chr88275360282754599E08122125
chr88275290282753069E08221425
chr88275314082753307E08221663
chr88275349982753591E08222022
chr88275360282754599E08222125
chr88275461982755486E08223142