rs35405

Homo sapiens
C>T
SLC45A2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0355 (10548/29694,GnomAD)
T=0317 (9255/29118,TOPMED)
T=0228 (1144/5008,1000G)
T=0444 (1712/3854,ALSPAC)
T=0429 (1589/3708,TWINSUK)
chr5:33945653 (GRCh38.p7) (5p13.2)
ND
GWASdb2
2   publication(s)
See rs on genome
5 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.33945653C>T
GRCh37.p13 chr 5NC_000005.9:g.33945758C>T
SLC45A2 RefSeqGeneNG_011691.2:g.44023G>A
GRCh38.p7 chr 5 alt locus HSCHR5_6_CTG1NT_187551.1:g.146975C>T

Gene: SLC45A2, solute carrier family 45 member 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC45A2 transcript variant 1NM_016180.4:c.N/AIntron Variant
SLC45A2 transcript variant 2NM_001012509.3:c.N/AGenic Downstream Transcript Variant
SLC45A2 transcript variant 3NM_001297417.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.833T=0.167
1000GenomesAmericanSub694C=0.770T=0.230
1000GenomesEast AsianSub1008C=0.896T=0.104
1000GenomesEuropeSub1006C=0.536T=0.464
1000GenomesGlobalStudy-wide5008C=0.772T=0.228
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.556T=0.444
The Genome Aggregation DatabaseAfricanSub8574C=0.802T=0.198
The Genome Aggregation DatabaseAmericanSub838C=0.770T=0.230
The Genome Aggregation DatabaseEast AsianSub1616C=0.880T=0.120
The Genome Aggregation DatabaseEuropeSub18364C=0.545T=0.454
The Genome Aggregation DatabaseGlobalStudy-wide29694C=0.644T=0.355
The Genome Aggregation DatabaseOtherSub302C=0.600T=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.682T=0.317
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.571T=0.429
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
21559390A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene.Ibarrola-Villava MPLoS One

P-Value

SNP ID p-value Traits Study
rs354050.000782nicotine smoking19268276

eQTL of rs35405 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 rs35405 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 )
chr53397536933975477E07029611
chr53397581933976350E07030061
chr53393877533939068E081-6690
chr53396813033969063E08222372
chr53396919633969325E08223438



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr53393603733937469E067-8289