rs10814995

Homo sapiens
A>C
SLC1A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0352 (10549/29944,GnomAD)
C=0349 (10189/29118,TOPMED)
C=0290 (1452/5008,1000G)
C=0356 (1373/3854,ALSPAC)
C=0359 (1331/3708,TWINSUK)
chr9:4505544 (GRCh38.p7) (9p24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.4505544A>C
GRCh37.p13 chr 9NC_000009.11:g.4505544A>C
SLC1A1 RefSeqGeneNG_017044.1:g.20118A>C

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 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
SLC1A1 transcript variant X2XM_011518008.2:c.N/AGenic Upstream Transcript Variant
SLC1A1 transcript variant X4XM_011518009.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.695C=0.305
1000GenomesAmericanSub694A=0.570C=0.430
1000GenomesEast AsianSub1008A=0.730C=0.270
1000GenomesEuropeSub1006A=0.680C=0.320
1000GenomesGlobalStudy-wide5008A=0.710C=0.290
1000GenomesSouth AsianSub978A=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.644C=0.356
The Genome Aggregation DatabaseAfricanSub8708A=0.650C=0.350
The Genome Aggregation DatabaseAmericanSub834A=0.550C=0.450
The Genome Aggregation DatabaseEast AsianSub1612A=0.710C=0.290
The Genome Aggregation DatabaseEuropeSub18488A=0.644C=0.355
The Genome Aggregation DatabaseGlobalStudy-wide29944A=0.647C=0.352
The Genome Aggregation DatabaseOtherSub302A=0.710C=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.650C=0.349
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.641C=0.359
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
rs108149950.00061alcohol dependence20201924

eQTL of rs10814995 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 rs10814995 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 )
chr944956314496071E067-9473
chr945508624551481E06745318
chr945515124551791E06745968
chr945550844555220E06749540
chr945552504555448E06749706
chr945005354500810E068-4734
chr945303594530795E06824815
chr945550844555220E06849540
chr945552504555448E06849706
chr945303594530795E06924815
chr945508624551481E06945318
chr945515124551791E06945968
chr945303594530795E07124815
chr945308684531135E07125324
chr945303594530795E07224815
chr945508624551481E07245318
chr945505144550801E07344970
chr945508624551481E07345318
chr945508624551481E07445318
chr945515124551791E07445968







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr944894224490804E067-14740
chr944908704492067E067-13477
chr944893194489376E068-16168
chr944894224490804E068-14740
chr944908704492067E068-13477
chr944922054492255E068-13289
chr944922844492385E068-13159
chr944894224490804E069-14740
chr944908704492067E069-13477
chr944894224490804E070-14740
chr944908704492067E070-13477
chr944894224490804E071-14740
chr944908704492067E071-13477
chr944894224490804E072-14740
chr944908704492067E072-13477
chr944922054492255E072-13289
chr944922844492385E072-13159
chr944894224490804E073-14740
chr944908704492067E073-13477
chr944894224490804E074-14740
chr944894224490804E081-14740
chr944908704492067E081-13477
chr944894224490804E082-14740
chr944908704492067E082-13477