rs977749

Homo sapiens
T>C
SYT9 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0284 (8423/29660,GnomAD)
C=0269 (7854/29118,TOPMED)
C=0226 (1130/5008,1000G)
C=0365 (1406/3854,ALSPAC)
C=0364 (1350/3708,TWINSUK)
chr11:7363180 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome
106 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.7363180T>C
GRCh37.p13 chr 11NC_000011.9:g.7384411T>C

Gene: SYT9, synaptotagmin 9(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SYT9 transcriptNM_175733.3:c.N/AIntron Variant
SYT9 transcript variant X1XM_011519900.2:c.N/AIntron Variant
SYT9 transcript variant X2XM_011519901.2:c.N/AIntron Variant
SYT9 transcript variant X3XM_011519902.2:c.N/AIntron Variant
SYT9 transcript variant X4XM_011519904.2:c.N/AIntron Variant
SYT9 transcript variant X7XM_011519906.2:c.N/AGenic Downstream Transcript Variant
SYT9 transcript variant X8XM_011519907.2:c.N/AGenic Downstream Transcript Variant
SYT9 transcript variant X5XR_001747772.1:n.N/AIntron Variant
SYT9 transcript variant X6XR_001747773.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.884C=0.116
1000GenomesAmericanSub694T=0.700C=0.300
1000GenomesEast AsianSub1008T=0.829C=0.171
1000GenomesEuropeSub1006T=0.648C=0.352
1000GenomesGlobalStudy-wide5008T=0.774C=0.226
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.635C=0.365
The Genome Aggregation DatabaseAfricanSub8674T=0.848C=0.152
The Genome Aggregation DatabaseAmericanSub832T=0.740C=0.260
The Genome Aggregation DatabaseEast AsianSub1616T=0.874C=0.126
The Genome Aggregation DatabaseEuropeSub18236T=0.637C=0.362
The Genome Aggregation DatabaseGlobalStudy-wide29660T=0.716C=0.284
The Genome Aggregation DatabaseOtherSub302T=0.730C=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.730C=0.269
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.636C=0.364
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs9777497.5E-05alcoholism (heaviness of drinking)21529783

eQTL of rs977749 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 rs977749 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 )
chr1173402367340341E067-44070
chr1173407697340914E067-43497
chr1173409777341093E067-43318
chr1173411617341233E067-43178
chr1173415617341659E067-42752
chr1173416917341774E067-42637
chr1173428957342945E067-41466
chr1173430217343194E067-41217
chr1173433847343562E067-40849
chr1173436997343774E067-40637
chr1173689127369263E067-15148
chr1173694487369618E067-14793
chr1173696527369896E067-14515
chr1173700307370586E067-13825
chr1173862977386360E0671886
chr1173407697340914E068-43497
chr1173409777341093E068-43318
chr1173411617341233E068-43178
chr1173415617341659E068-42752
chr1173416917341774E068-42637
chr1173421197342169E068-42242
chr1173428957342945E068-41466
chr1173430217343194E068-41217
chr1173433847343562E068-40849
chr1173436997343774E068-40637
chr1173689127369263E068-15148
chr1173694487369618E068-14793
chr1173696527369896E068-14515
chr1173700307370586E068-13825
chr1173407697340914E069-43497
chr1173409777341093E069-43318
chr1173411617341233E069-43178
chr1173428957342945E069-41466
chr1173430217343194E069-41217
chr1173433847343562E069-40849
chr1173436997343774E069-40637
chr1173438017343845E069-40566
chr1173694487369618E069-14793
chr1173696527369896E069-14515
chr1173700307370586E069-13825
chr1173707577370870E069-13541
chr1173859757386185E0691564
chr1173862977386360E0691886
chr1173428957342945E070-41466
chr1173430217343194E070-41217
chr1173433847343562E070-40849
chr1173407697340914E071-43497
chr1173409777341093E071-43318
chr1173411617341233E071-43178
chr1173415617341659E071-42752
chr1173416917341774E071-42637
chr1173421197342169E071-42242
chr1173428957342945E071-41466
chr1173430217343194E071-41217
chr1173433847343562E071-40849
chr1173436997343774E071-40637
chr1173689127369263E071-15148
chr1173694487369618E071-14793
chr1173696527369896E071-14515
chr1173700307370586E071-13825
chr1173707577370870E071-13541
chr1173859757386185E0711564
chr1173862977386360E0711886
chr1173872587387445E0712847
chr1173407697340914E072-43497
chr1173409777341093E072-43318
chr1173411617341233E072-43178
chr1173415617341659E072-42752
chr1173416917341774E072-42637
chr1173421197342169E072-42242
chr1173428957342945E072-41466
chr1173430217343194E072-41217
chr1173433847343562E072-40849
chr1173436997343774E072-40637
chr1173689127369263E072-15148
chr1173694487369618E072-14793
chr1173696527369896E072-14515
chr1173700307370586E072-13825
chr1173707577370870E072-13541
chr1173859757386185E0721564
chr1173862977386360E0721886
chr1173411617341233E073-43178
chr1173415617341659E073-42752
chr1173416917341774E073-42637
chr1173428957342945E073-41466
chr1173436997343774E073-40637
chr1173700307370586E073-13825
chr1173402367340341E074-44070
chr1173407697340914E074-43497
chr1173409777341093E074-43318
chr1173411617341233E074-43178
chr1173415617341659E074-42752
chr1173416917341774E074-42637
chr1173421197342169E074-42242
chr1173428957342945E074-41466
chr1173430217343194E074-41217
chr1173433847343562E074-40849
chr1173436997343774E074-40637
chr1173438017343845E074-40566
chr1173689127369263E074-15148
chr1173694487369618E074-14793
chr1173696527369896E074-14515
chr1173700307370586E074-13825
chr1174210177421061E07436606
chr1174211667421216E07436755
chr1174212617421386E07436850