rs10120545

Homo sapiens
C>T
ADAMTSL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0172 (5169/29904,GnomAD)
T=0172 (5030/29118,TOPMED)
T=0212 (1061/5008,1000G)
T=0150 (578/3854,ALSPAC)
T=0151 (559/3708,TWINSUK)
chr9:18386759 (GRCh38.p7) (9p22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
30 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.18386759C>T
GRCh37.p13 chr 9NC_000009.11:g.18386757C>T

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 X6XM_017015313.1: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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.835T=0.165
1000GenomesAmericanSub694C=0.590T=0.410
1000GenomesEast AsianSub1008C=0.773T=0.227
1000GenomesEuropeSub1006C=0.858T=0.142
1000GenomesGlobalStudy-wide5008C=0.788T=0.212
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.850T=0.150
The Genome Aggregation DatabaseAfricanSub8718C=0.827T=0.173
The Genome Aggregation DatabaseAmericanSub836C=0.570T=0.430
The Genome Aggregation DatabaseEast AsianSub1616C=0.785T=0.215
The Genome Aggregation DatabaseEuropeSub18432C=0.842T=0.157
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.827T=0.172
The Genome Aggregation DatabaseOtherSub302C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.827T=0.172
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.849T=0.151
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs101205450.000456alcohol dependence21314694

eQTL of rs10120545 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 rs10120545 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 )
chr91834782618347968E067-38789
chr91834797218348062E067-38695
chr91839311418394451E0686357
chr91834749818347757E069-39000
chr91834782618347968E069-38789
chr91834797218348062E069-38695
chr91834824318348415E069-38342
chr91839311418394451E0706357
chr91840448218404723E07017725
chr91840478518404842E07018028
chr91834720718347305E071-39452
chr91834749818347757E071-39000
chr91834782618347968E071-38789
chr91834797218348062E071-38695
chr91834824318348415E071-38342
chr91836232118362856E071-23901
chr91839311418394451E0716357
chr91834749818347757E072-39000
chr91834782618347968E072-38789
chr91834797218348062E072-38695
chr91834824318348415E072-38342
chr91834661118346677E074-40080
chr91834677618347088E074-39669
chr91834749818347757E074-39000
chr91834782618347968E074-38789
chr91834797218348062E074-38695
chr91839311418394451E0746357
chr91839458318394633E0747826
chr91840448218404723E08217725
chr91840478518404842E08218028