rs17078717

Homo sapiens
A>G / A>T
SACS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0277 (8300/29910,GnomAD)
G=0249 (7274/29116,TOPMED)
G=0310 (1551/5008,1000G)
chr13:23410292 (GRCh38.p7) (13q12.12)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.23410292A>G
GRCh38.p7 chr 13NC_000013.11:g.23410292A>T
GRCh37.p13 chr 13NC_000013.10:g.23984431A>G
GRCh37.p13 chr 13NC_000013.10:g.23984431A>T
SACS RefSeqGeneNG_012342.1:g.28411T>C
SACS RefSeqGeneNG_012342.1:g.28411T>A

Gene: SACS, sacsin molecular chaperone(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SACS transcript variant 1NM_014363.5:c.N/AIntron Variant
SACS transcript variant 2NM_001278055.1:c.N/AGenic Upstream Transcript Variant
SACS transcript variant X1XM_005266338.2:c.N/AIntron Variant
SACS transcript variant X3XM_011535039.2:c.N/AGenic Upstream Transcript Variant
SACS transcript variant X4XM_017020539.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.877G=0.123
1000GenomesAmericanSub694A=0.740G=0.260
1000GenomesEast AsianSub1008A=0.522G=0.478
1000GenomesEuropeSub1006A=0.671G=0.329
1000GenomesGlobalStudy-wide5008A=0.690G=0.310
1000GenomesSouth AsianSub978A=0.600G=0.400
The Genome Aggregation DatabaseAfricanSub8712A=0.850T=0.000
The Genome Aggregation DatabaseAmericanSub836A=0.740T=0.00,
The Genome Aggregation DatabaseEast AsianSub1614A=0.525T=0.000
The Genome Aggregation DatabaseEuropeSub18446A=0.680T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29910A=0.722T=0.000
The Genome Aggregation DatabaseOtherSub302A=0.570T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.750G=0.249
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs170787170.000555alcohol dependence20201924

eQTL of rs17078717 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 rs17078717 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.