rs7216753

Homo sapiens
A>C
STX8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0257 (7725/29968,GnomAD)
C=0234 (6832/29118,TOPMED)
C=0343 (1720/5008,1000G)
C=0168 (647/3854,ALSPAC)
C=0168 (622/3708,TWINSUK)
chr17:9446509 (GRCh38.p7) (17p13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
54 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.9446509A>C
GRCh37.p13 chr 17NC_000017.10:g.9349826A>C

Gene: STX8, syntaxin 8(minus strand)

Molecule type Change Amino acid[Codon] SO Term
STX8 transcript variant 1NM_004853.2:c.N/AIntron Variant
STX8 transcript variant 2NR_033656.1:n.N/AIntron Variant
STX8 transcript variant X2XM_011524079.2:c.N/AIntron Variant
STX8 transcript variant X1XR_934120.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.732C=0.268
1000GenomesAmericanSub694A=0.620C=0.380
1000GenomesEast AsianSub1008A=0.395C=0.605
1000GenomesEuropeSub1006A=0.813C=0.187
1000GenomesGlobalStudy-wide5008A=0.657C=0.343
1000GenomesSouth AsianSub978A=0.690C=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.832C=0.168
The Genome Aggregation DatabaseAfricanSub8710A=0.745C=0.255
The Genome Aggregation DatabaseAmericanSub838A=0.520C=0.480
The Genome Aggregation DatabaseEast AsianSub1618A=0.394C=0.606
The Genome Aggregation DatabaseEuropeSub18500A=0.781C=0.218
The Genome Aggregation DatabaseGlobalStudy-wide29968A=0.742C=0.257
The Genome Aggregation DatabaseOtherSub302A=0.730C=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.765C=0.234
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.832C=0.168
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs72167535.46E-05alcohol dependence21703634

eQTL of rs7216753 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 rs7216753 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 )
chr1793354999336453E067-13373
chr1793364679336788E067-13038
chr1793398569340705E067-9121
chr1793407339340812E067-9014
chr1793479739348500E067-1326
chr1793485539348603E067-1223
chr1793783249378421E06728498
chr1793785929378831E06728766
chr1793788339378966E06729007
chr1793498489350135E06822
chr1793501379350442E068311
chr1793706959370909E06820869
chr1793709319371093E06821105
chr1793783249378421E06828498
chr1793785929378831E06828766
chr1793788339378966E06829007
chr1793479739348500E069-1326
chr1793485539348603E069-1223
chr1793783249378421E06928498
chr1793785929378831E06928766
chr1793788339378966E06929007
chr1793121549313154E070-36672
chr1793305349330657E070-19169
chr1793308819331055E070-18771
chr1793783249378421E07028498
chr1793785929378831E07028766
chr1793788339378966E07029007
chr1793479739348500E071-1326
chr1793485539348603E071-1223
chr1793783249378421E07128498
chr1793785929378831E07128766
chr1793788339378966E07129007
chr1793350539335261E072-14565
chr1793783249378421E07228498
chr1793785929378831E07228766
chr1793788339378966E07229007
chr1793479739348500E073-1326
chr1793485539348603E073-1223
chr1793785929378831E07328766
chr1793788339378966E07329007
chr1793354999336453E074-13373
chr1793364679336788E074-13038
chr1793398569340705E074-9121
chr1793407339340812E074-9014
chr1793485539348603E074-1223
chr1793487269348847E074-979
chr1793783249378421E07428498
chr1793785929378831E07428766
chr1793788339378966E07429007
chr1793305349330657E082-19169
chr1793308819331055E082-18771
chr1793311349331516E082-18310
chr1793479739348500E082-1326
chr1793485539348603E082-1223