rs11780390

Homo sapiens
G>A
SNTB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0227 (6794/29932,GnomAD)
A=0236 (6891/29118,TOPMED)
A=0166 (832/5008,1000G)
A=0270 (1042/3854,ALSPAC)
A=0268 (994/3708,TWINSUK)
chr8:120637885 (GRCh38.p7) (8q24.12)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.120637885G>A
GRCh37.p13 chr 8NC_000008.10:g.121650125G>A
NCAPGP1 pseudogeneNG_026071.2:g.376C>T

Gene: SNTB1, syntrophin beta 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SNTB1 transcriptNM_021021.3:c.N/AIntron Variant
SNTB1 transcript variant X1XM_011517239.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.848A=0.152
1000GenomesAmericanSub694G=0.780A=0.220
1000GenomesEast AsianSub1008G=0.931A=0.069
1000GenomesEuropeSub1006G=0.710A=0.290
1000GenomesGlobalStudy-wide5008G=0.834A=0.166
1000GenomesSouth AsianSub978G=0.880A=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.730A=0.270
The Genome Aggregation DatabaseAfricanSub8714G=0.822A=0.178
The Genome Aggregation DatabaseAmericanSub836G=0.770A=0.230
The Genome Aggregation DatabaseEast AsianSub1622G=0.939A=0.061
The Genome Aggregation DatabaseEuropeSub18458G=0.738A=0.261
The Genome Aggregation DatabaseGlobalStudy-wide29932G=0.773A=0.227
The Genome Aggregation DatabaseOtherSub302G=0.590A=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.763A=0.236
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.732A=0.268
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs117803900.000552alcohol dependence21314694

eQTL of rs11780390 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 rs11780390 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 )
chr8121666316121667498E06916191
chr8121654595121654811E0704470
chr8121654828121654904E0704703
chr8121605358121606255E074-43870
chr8121665043121665093E08114918
chr8121665136121665401E08115011
chr8121665441121665531E08115316
chr8121665844121665903E08115719
chr8121665962121666012E08115837
chr8121666154121666217E08116029
chr8121666316121667498E08116191