rs17198023

Homo sapiens
A>C
ADAMTSL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0090 (2709/29902,GnomAD)
C=0075 (2201/29118,TOPMED)
C=0049 (246/5008,1000G)
C=0138 (532/3854,ALSPAC)
C=0128 (476/3708,TWINSUK)
chr9:18194385 (GRCh38.p7) (9p22.2)
ND
GWASCatalog
1   publication(s)
See rs on genome
7 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.18194385A>C
GRCh37.p13 chr 9NC_000009.11:g.18194383A>C

Gene: ADAMTSL1, ADAMTS like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ADAMTSL1 transcript variant 4NM_001040272.5:c.N/AGenic Upstream Transcript Variant
ADAMTSL1 transcript variant 2NM_052866.4:c.N/AGenic Upstream Transcript Variant
ADAMTSL1 transcript variant X1XM_011518063.2:c.N/AIntron Variant
ADAMTSL1 transcript variant X3XM_011518064.2:c.N/AIntron Variant
ADAMTSL1 transcript variant X2XM_017015310.1:c.N/AIntron Variant
ADAMTSL1 transcript variant X4XM_017015311.1:c.N/AIntron Variant
ADAMTSL1 transcript variant X5XM_017015312.1:c.N/AIntron Variant
ADAMTSL1 transcript variant X7XM_017015314.1:c.N/AIntron Variant
ADAMTSL1 transcript variant X8XM_011518067.1:c.N/AGenic Upstream Transcript Variant
ADAMTSL1 transcript variant X9XM_011518068.2:c.N/AGenic Upstream Transcript Variant
ADAMTSL1 transcript variant X10XM_011518070.2:c.N/AGenic Upstream Transcript Variant
ADAMTSL1 transcript variant X6XM_017015313.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.996C=0.004
1000GenomesAmericanSub694A=0.910C=0.090
1000GenomesEast AsianSub1008A=0.999C=0.001
1000GenomesEuropeSub1006A=0.847C=0.153
1000GenomesGlobalStudy-wide5008A=0.951C=0.049
1000GenomesSouth AsianSub978A=0.970C=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.862C=0.138
The Genome Aggregation DatabaseAfricanSub8712A=0.973C=0.027
The Genome Aggregation DatabaseAmericanSub834A=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1598A=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18456A=0.872C=0.127
The Genome Aggregation DatabaseGlobalStudy-wide29902A=0.909C=0.090
The Genome Aggregation DatabaseOtherSub302A=0.840C=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.924C=0.075
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.872C=0.128
PMID Title Author Journal
28440896Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence.Yin XAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs171980235E-06nicotine dependence28440896

eQTL of rs17198023 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 rs17198023 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 )
chr91821300618213587E06718623
chr91818990018190629E068-3754
chr91819078318190945E068-3438
chr91818975718189811E070-4572
chr91818981918189877E070-4506
chr91818990018190629E070-3754
chr91818990018190629E074-3754