rs17812250

Homo sapiens
A>G
SLC1A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0220 (6596/29868,GnomAD)
G=0184 (5371/29118,TOPMED)
G=0179 (897/5008,1000G)
G=0283 (1090/3854,ALSPAC)
G=0287 (1065/3708,TWINSUK)
chr9:4517894 (GRCh38.p7) (9p24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.4517894A>G
GRCh37.p13 chr 9NC_000009.11:g.4517894A>G
SLC1A1 RefSeqGeneNG_017044.1:g.32468A>G

Gene: SLC1A1, solute carrier family 1 member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC1A1 transcriptNM_004170.5:c.N/AIntron Variant
SLC1A1 transcript variant X1XM_011518007.1:c.N/AIntron Variant
SLC1A1 transcript variant X2XM_011518008.2:c.N/AIntron Variant
SLC1A1 transcript variant X4XM_011518009.2:c.N/AIntron Variant
SLC1A1 transcript variant X6XM_011518010.1:c.N/AIntron Variant
SLC1A1 transcript variant X3XM_017015042.1:c.N/AIntron Variant
SLC1A1 transcript variant X5XM_017015043.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.959G=0.041
1000GenomesAmericanSub694A=0.660G=0.340
1000GenomesEast AsianSub1008A=0.804G=0.196
1000GenomesEuropeSub1006A=0.736G=0.264
1000GenomesGlobalStudy-wide5008A=0.821G=0.179
1000GenomesSouth AsianSub978A=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.717G=0.283
The Genome Aggregation DatabaseAfricanSub8714A=0.924G=0.076
The Genome Aggregation DatabaseAmericanSub832A=0.700G=0.300
The Genome Aggregation DatabaseEast AsianSub1612A=0.790G=0.210
The Genome Aggregation DatabaseEuropeSub18410A=0.713G=0.286
The Genome Aggregation DatabaseGlobalStudy-wide29868A=0.779G=0.220
The Genome Aggregation DatabaseOtherSub300A=0.780G=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.815G=0.184
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.713G=0.287
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
rs178122500.00012alcohol dependence20201924

eQTL of rs17812250 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 rs17812250 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 )
chr944956314496071E067-21823
chr945508624551481E06732968
chr945515124551791E06733618
chr945550844555220E06737190
chr945552504555448E06737356
chr945005354500810E068-17084
chr945303594530795E06812465
chr945550844555220E06837190
chr945552504555448E06837356
chr945554704555545E06837576
chr945556704555720E06837776
chr945557914555857E06837897
chr945676834567776E06849789
chr945303594530795E06912465
chr945508624551481E06932968
chr945515124551791E06933618
chr945668484567216E06948954
chr945676834567776E06949789
chr945303594530795E07112465
chr945308684531135E07112974
chr945668484567216E07148954
chr945303594530795E07212465
chr945508624551481E07232968
chr945505144550801E07332620
chr945508624551481E07332968
chr945508624551481E07432968
chr945515124551791E07433618







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr944894224490804E067-27090
chr944908704492067E067-25827
chr944893194489376E068-28518
chr944894224490804E068-27090
chr944908704492067E068-25827
chr944922054492255E068-25639
chr944922844492385E068-25509
chr944894224490804E069-27090
chr944908704492067E069-25827
chr944894224490804E070-27090
chr944908704492067E070-25827
chr944894224490804E071-27090
chr944908704492067E071-25827
chr944894224490804E072-27090
chr944908704492067E072-25827
chr944922054492255E072-25639
chr944922844492385E072-25509
chr944894224490804E073-27090
chr944908704492067E073-25827
chr944894224490804E074-27090
chr944894224490804E081-27090
chr944908704492067E081-25827
chr944894224490804E082-27090
chr944908704492067E082-25827