rs10188230

Homo sapiens
T>C
SLC40A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0082 (2483/29984,GnomAD)
C=0125 (3650/29118,TOPMED)
C=0089 (446/5008,1000G)
C=0018 (70/3854,ALSPAC)
C=0021 (79/3708,TWINSUK)
chr2:189567887 (GRCh38.p7) (2q32.2)
AD
GWASdb2
2   publication(s)
See rs on genome
38 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.189567887T>C
GRCh37.p13 chr 2NC_000002.11:g.190432613T>C
SLC40A1 RefSeqGene LRG_837

Gene: SLC40A1, solute carrier family 40 member 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC40A1 transcriptNM_014585.5:c.N/AIntron Variant
SLC40A1 transcript variant X1XM_005246505.1:c.N/AIntron Variant
SLC40A1 transcript variant X2XM_017003938.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.721C=0.279
1000GenomesAmericanSub694T=0.960C=0.040
1000GenomesEast AsianSub1008T=0.999C=0.001
1000GenomesEuropeSub1006T=0.971C=0.029
1000GenomesGlobalStudy-wide5008T=0.911C=0.089
1000GenomesSouth AsianSub978T=0.980C=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.982C=0.018
The Genome Aggregation DatabaseAfricanSub8720T=0.757C=0.243
The Genome Aggregation DatabaseAmericanSub838T=0.970C=0.030
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18502T=0.983C=0.016
The Genome Aggregation DatabaseGlobalStudy-wide29984T=0.917C=0.082
The Genome Aggregation DatabaseOtherSub302T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.874C=0.125
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.979C=0.021
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
17847004Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.Milet JAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs101882300.00053alcohol dependence20201924

eQTL of rs10188230 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 rs10188230 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 )
chr2190424216190424865E068-7748
chr2190434197190434257E0681584
chr2190434302190434500E0681689
chr2190442785190442846E06810172
chr2190424216190424865E069-7748
chr2190424878190424976E069-7637
chr2190424989190425072E069-7541
chr2190434197190434257E0691584
chr2190434302190434500E0691689
chr2190441863190441940E0699250
chr2190442956190443019E06910343
chr2190443123190443230E06910510
chr2190416817190416872E071-15741
chr2190416904190417018E071-15595
chr2190417074190417393E071-15220
chr2190417679190418194E071-14419
chr2190424216190424865E071-7748
chr2190424878190424976E071-7637
chr2190424989190425072E071-7541
chr2190441222190441411E0718609
chr2190441863190441940E0719250
chr2190441978190442173E0719365
chr2190441863190441940E0729250
chr2190441978190442173E0729365
chr2190441978190442173E0739365
chr2190446913190447007E07314300
chr2190391921190392091E074-40522
chr2190413518190413644E074-18969
chr2190413863190414559E074-18054
chr2190424216190424865E074-7748
chr2190446913190447007E07414300
chr2190420498190420622E081-11991
chr2190420768190421016E081-11597
chr2190420498190420622E082-11991
chr2190420768190421016E082-11597
chr2190441863190441940E0829250
chr2190441978190442173E0829365
chr2190442785190442846E08210172








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2190444250190444824E06711637
chr2190444872190446825E06712259
chr2190443418190443525E06810805
chr2190444250190444824E06811637
chr2190444872190446825E06812259
chr2190444872190446825E06912259
chr2190444250190444824E07011637
chr2190444872190446825E07012259
chr2190444250190444824E07111637
chr2190444872190446825E07112259
chr2190444250190444824E07211637
chr2190444872190446825E07212259
chr2190443418190443525E07310805
chr2190444250190444824E07311637
chr2190444872190446825E07312259
chr2190444250190444824E07411637
chr2190444872190446825E07412259
chr2190444250190444824E08211637
chr2190444872190446825E08212259