rs2712208

Homo sapiens
C>G
SLC26A4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0188 (5646/29918,GnomAD)
G=0138 (4036/29118,TOPMED)
G=0243 (1218/5008,1000G)
G=0210 (810/3854,ALSPAC)
G=0223 (827/3708,TWINSUK)
chr7:107703317 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107703317C>G
GRCh37.p13 chr 7NC_000007.13:g.107343762C>G
SLC26A4 RefSeqGeneNG_008489.1:g.47683C>G

Gene: SLC26A4, solute carrier family 26 member 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC26A4 transcriptNM_000441.1:c.N/AIntron Variant
SLC26A4 transcript variant X1XM_005250425.2:c.N/AIntron Variant
SLC26A4 transcript variant X2XM_017012318.1:c.N/AIntron Variant
SLC26A4 transcript variant X3XM_006716025.3:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.982G=0.018
1000GenomesAmericanSub694C=0.750G=0.250
1000GenomesEast AsianSub1008C=0.655G=0.345
1000GenomesEuropeSub1006C=0.764G=0.236
1000GenomesGlobalStudy-wide5008C=0.757G=0.243
1000GenomesSouth AsianSub978C=0.550G=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.790G=0.210
The Genome Aggregation DatabaseAfricanSub8712C=0.947G=0.053
The Genome Aggregation DatabaseAmericanSub836C=0.760G=0.240
The Genome Aggregation DatabaseEast AsianSub1616C=0.635G=0.365
The Genome Aggregation DatabaseEuropeSub18454C=0.765G=0.234
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.811G=0.188
The Genome Aggregation DatabaseOtherSub300C=0.790G=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.861G=0.138
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.777G=0.223
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs27122081.32E-05alcohol consumption23743675

eQTL of rs2712208 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107343762AC002467.7ENSG00000241764.3C>G1.1747e-4-41119Cerebellum
Chr7:107343762AC002467.7ENSG00000241764.3C>G2.1985e-5-41119Frontal_Cortex_BA9
Chr7:107343762AC002467.7ENSG00000241764.3C>G1.0521e-4-41119Cortex
Chr7:107343762AC002467.7ENSG00000241764.3C>G4.1131e-5-41119Cerebellar_Hemisphere
Chr7:107343762AC002467.7ENSG00000241764.3C>G4.3055e-3-41119Caudate_basal_ganglia
Chr7:107343762AC002467.7ENSG00000241764.3C>G1.0776e-3-41119Nucleus_accumbens_basal_ganglia

meQTL of rs2712208 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 )
chr7107333486107333578E067-10184
chr7107333824107334105E067-9657
chr7107334175107334517E067-9245
chr7107334625107335182E067-8580
chr7107335233107335327E067-8435
chr7107383023107383099E06739261
chr7107386669107386772E06742907
chr7107387624107387709E06743862
chr7107387798107387880E06744036
chr7107333486107333578E068-10184
chr7107333824107334105E068-9657
chr7107334175107334517E068-9245
chr7107334625107335182E068-8580
chr7107335233107335327E068-8435
chr7107341168107341256E068-2506
chr7107341276107341497E068-2265
chr7107382753107382818E06838991
chr7107386669107386772E06842907
chr7107387624107387709E06843862
chr7107387798107387880E06844036
chr7107387932107387978E06844170
chr7107388350107388400E06844588
chr7107333486107333578E069-10184
chr7107333824107334105E069-9657
chr7107334175107334517E069-9245
chr7107334625107335182E069-8580
chr7107335233107335327E069-8435
chr7107335529107335618E069-8144
chr7107337294107337374E069-6388
chr7107337495107337545E069-6217
chr7107383023107383099E06939261
chr7107386669107386772E06942907
chr7107387624107387709E06943862
chr7107387798107387880E06944036
chr7107387932107387978E06944170
chr7107332948107333294E070-10468
chr7107333486107333578E070-10184
chr7107333824107334105E070-9657
chr7107334175107334517E070-9245
chr7107334625107335182E070-8580
chr7107335233107335327E070-8435
chr7107335529107335618E070-8144
chr7107335644107335829E070-7933
chr7107337495107337545E070-6217
chr7107337639107338679E070-5083
chr7107383023107383099E07039261
chr7107386669107386772E07042907
chr7107387798107387880E07044036
chr7107387932107387978E07044170
chr7107388350107388400E07044588
chr7107332129107332230E071-11532
chr7107332267107332442E071-11320
chr7107332948107333294E071-10468
chr7107333486107333578E071-10184
chr7107333824107334105E071-9657
chr7107335233107335327E071-8435
chr7107337495107337545E071-6217
chr7107337639107338679E071-5083
chr7107383023107383099E07139261
chr7107333824107334105E072-9657
chr7107334175107334517E072-9245
chr7107334625107335182E072-8580
chr7107337639107338679E072-5083
chr7107383023107383099E07239261
chr7107386669107386772E07242907
chr7107333824107334105E073-9657
chr7107334175107334517E073-9245
chr7107334625107335182E073-8580
chr7107335233107335327E073-8435
chr7107337639107338679E073-5083
chr7107333486107333578E074-10184
chr7107333824107334105E074-9657
chr7107334175107334517E074-9245
chr7107335233107335327E074-8435
chr7107333824107334105E081-9657
chr7107337639107338679E081-5083
chr7107338996107339076E081-4686
chr7107334175107334517E082-9245
chr7107334625107335182E082-8580
chr7107337294107337374E082-6388
chr7107337495107337545E082-6217
chr7107337639107338679E082-5083
chr7107386669107386772E08242907
chr7107387798107387880E08244036
chr7107387932107387978E08244170
chr7107388350107388400E08244588










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107300841107302741E067-41021
chr7107383118107385525E06739356
chr7107300841107302741E068-41021
chr7107383118107385525E06839356
chr7107300841107302741E069-41021
chr7107383118107385525E06939356
chr7107383118107385525E07039356
chr7107300841107302741E071-41021
chr7107383118107385525E07139356
chr7107300841107302741E072-41021
chr7107383118107385525E07239356
chr7107300841107302741E073-41021
chr7107383118107385525E07339356
chr7107300841107302741E074-41021
chr7107383118107385525E07439356
chr7107383118107385525E08139356
chr7107300841107302741E082-41021
chr7107383118107385525E08239356