rs907609

Homo sapiens
C>T
SYT8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0183 (18455/100732,ExAC)
T=0150 (4490/29892,GnomAD)
T=0122 (3569/29118,TOPMED)
T=0140 (703/5008,1000G)
T=0137 (528/3854,ALSPAC)
T=0148 (550/3708,TWINSUK)
chr11:1836040 (GRCh38.p7) (11p15.5)
AD
GWASdb2
3   publication(s)
See rs on genome
62 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.1836040C>T
GRCh37.p13 chr 11NC_000011.9:g.1857270C>T
SYT8 RefSeqGeneNG_034029.1:g.6731C>T
TNNI2 RefSeqGeneNG_011621.1:g.2038C>T

Gene: SYT8, synaptotagmin 8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SYT8 transcript variant 1NM_001290332.1:c.N/AIntron Variant
SYT8 transcript variant 3NM_001290333.1:c.N/AIntron Variant
SYT8 transcript variant 4NM_001290334.1:c.N/AIntron Variant
SYT8 transcript variant 2NM_138567.4:c.N/AIntron Variant
SYT8 transcript variant X1XM_011520455.1:c.N/AIntron Variant
SYT8 transcript variant X3XM_011520456.2:c.N/AIntron Variant
SYT8 transcript variant X5XM_011520457.2:c.N/AIntron Variant
SYT8 transcript variant X2XM_017018528.1:c.N/AIntron Variant
SYT8 transcript variant X4XM_017018529.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.899T=0.101
1000GenomesAmericanSub694C=0.810T=0.190
1000GenomesEast AsianSub1008C=0.912T=0.088
1000GenomesEuropeSub1006C=0.847T=0.153
1000GenomesGlobalStudy-wide5008C=0.860T=0.140
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.863T=0.137
The Genome Aggregation DatabaseAfricanSub8716C=0.908T=0.092
The Genome Aggregation DatabaseAmericanSub838C=0.790T=0.210
The Genome Aggregation DatabaseEast AsianSub1620C=0.937T=0.063
The Genome Aggregation DatabaseEuropeSub18416C=0.817T=0.182
The Genome Aggregation DatabaseGlobalStudy-wide29892C=0.849T=0.150
The Genome Aggregation DatabaseOtherSub302C=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.877T=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.852T=0.148
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
17952073Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.Burton PRNat Genet
19898621Gemcitabine and arabinosylcytosin pharmacogenomics: genome-wide association and drug response biomarkers.Li LPLoS One

P-Value

SNP ID p-value Traits Study
rs9076090.00013alcohol dependence20201924

eQTL of rs907609 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 rs907609 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 )
chr1118477661849199E067-8071
chr1118838671886458E06726597
chr1118865241886652E06729254
chr1118867291886814E06729459
chr1118838671886458E06826597
chr1118865241886652E06829254
chr1118867291886814E06829459
chr1118868731886920E06829603
chr1118477661849199E069-8071
chr1118492551849305E069-7965
chr1118493351849395E069-7875
chr1118838671886458E06926597
chr1118865241886652E06929254
chr1118867291886814E06929459
chr1118868731886920E06929603
chr1118915491891638E06934279
chr1118477661849199E070-8071
chr1118838671886458E07026597
chr1118865241886652E07029254
chr1118477661849199E071-8071
chr1118492551849305E071-7965
chr1118493351849395E071-7875
chr1118495381849588E071-7682
chr1118496691849772E071-7498
chr1118498431849959E071-7311
chr1118607481861992E0713478
chr1118838671886458E07126597
chr1118865241886652E07129254
chr1118867291886814E07129459
chr1118868731886920E07129603
chr1118870791887129E07129809
chr1118872931887492E07130023
chr1118973041898303E07140034
chr1118477661849199E072-8071
chr1118838671886458E07226597
chr1118865241886652E07229254
chr1118867291886814E07229459
chr1118906781891052E07233408
chr1118911851891423E07233915
chr1118915491891638E07234279
chr1118927091892795E07235439
chr1118471781847228E073-10042
chr1118474771847550E073-9720
chr1118477661849199E073-8071
chr1118584921860302E0731222
chr1118838671886458E07326597
chr1118865241886652E07329254
chr1118867291886814E07329459
chr1118868731886920E07329603
chr1118870791887129E07329809
chr1118477661849199E074-8071
chr1118838671886458E07426597
chr1118865241886652E07429254
chr1118867291886814E07429459
chr1118531561853306E081-3964
chr1118533131856480E081-790
chr1118838671886458E08126597
chr1118865241886652E08129254
chr1118911851891423E08133915
chr1118915491891638E08134279
chr1118477661849199E082-8071
chr1118531561853306E082-3964