rs17591292

Homo sapiens
C>T
LRRIQ3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0088 (2642/29872,GnomAD)
T=0101 (2947/29118,TOPMED)
T=0073 (366/5008,1000G)
T=0101 (389/3854,ALSPAC)
T=0103 (383/3708,TWINSUK)
chr1:74180374 (GRCh38.p7) (1p31.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.74180374C>T
GRCh37.p13 chr 1NC_000001.10:g.74646058C>T

Gene: LRRIQ3, leucine-rich repeats and IQ motif containing 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LRRIQ3 transcript variant 1NM_001105659.1:c.N/AIntron Variant
LRRIQ3 transcript variant 2NM_001322315.1:c.N/AIntron Variant
LRRIQ3 transcript variant X1XM_011540658.1:c.N/AIntron Variant
LRRIQ3 transcript variant X5XM_011540663.2:c.N/AIntron Variant
LRRIQ3 transcript variant X6XM_017000286.1:c.N/AIntron Variant
LRRIQ3 transcript variant X7XM_017000287.1:c.N/AIntron Variant
LRRIQ3 transcript variant X8XM_017000288.1:c.N/AIntron Variant
LRRIQ3 transcript variant X2XM_011540659.1:c.N/AGenic Upstream Transcript Variant
LRRIQ3 transcript variant X3XM_011540660.1:c.N/AGenic Upstream Transcript Variant
LRRIQ3 transcript variant X4XM_011540662.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.908T=0.092
1000GenomesAmericanSub694C=0.930T=0.070
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.909T=0.091
1000GenomesGlobalStudy-wide5008C=0.927T=0.073
1000GenomesSouth AsianSub978C=0.900T=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.899T=0.101
The Genome Aggregation DatabaseAfricanSub8710C=0.911T=0.089
The Genome Aggregation DatabaseAmericanSub832C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1614C=0.998T=0.002
The Genome Aggregation DatabaseEuropeSub18414C=0.904T=0.095
The Genome Aggregation DatabaseGlobalStudy-wide29872C=0.911T=0.088
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.898T=0.101
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.897T=0.103
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
rs175912920.000538alcohol dependence21314694

eQTL of rs17591292 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 rs17591292 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 )
chr17461086474610973E068-35085
chr17466310974663159E07117051
chr17467550374675980E07129445
chr17466519474665273E07219136
chr17466535074665442E07219292
chr17467550374675980E07229445
chr17461086474610973E074-35085
chr17466519474665273E08119136
chr17466535074665442E08119292
chr17467450374674553E08128445
chr17468055674680823E08134498
chr17468088274681289E08134824
chr17468399474684060E08137936
chr17468088274681289E08234824
chr17468181474682018E08235756






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr17466320174664512E06717143
chr17466468474664760E06718626
chr17466320174664512E06817143
chr17466468474664760E06818626
chr17466320174664512E06917143
chr17466468474664760E06918626
chr17466320174664512E07017143
chr17466468474664760E07018626
chr17466320174664512E07117143
chr17466468474664760E07118626
chr17466320174664512E07217143
chr17466468474664760E07218626
chr17466320174664512E07317143
chr17466468474664760E07318626
chr17466320174664512E07417143
chr17466468474664760E07418626
chr17466468474664760E08118626
chr17466320174664512E08217143
chr17466468474664760E08218626