rs17251987

Homo sapiens
C>T
AQP7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0119 (3563/29820,GnomAD)
T=0123 (3592/29118,TOPMED)
T=0097 (488/5008,1000G)
T=0107 (412/3854,ALSPAC)
T=0096 (356/3708,TWINSUK)
chr9:33388291 (GRCh38.p7) (9p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
39 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.33388291C>T
GRCh37.p13 chr 9NC_000009.11:g.33388289C>T
AQP7 RefSeqGeneNG_027764.1:g.19229G>A

Gene: AQP7, aquaporin 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
AQP7 transcript variant 1NM_001170.2:c.N/AIntron Variant
AQP7 transcript variant 2NM_001318156.1:c.N/AIntron Variant
AQP7 transcript variant 3NM_001318157.1:c.N/AIntron Variant
AQP7 transcript variant 4NM_001318158.1:c.N/AIntron Variant
AQP7 transcript variant 5NR_134513.1:n.N/AIntron Variant
AQP7 transcript variant 6NR_134514.1:n.N/AIntron Variant
AQP7 transcript variant 7NR_134515.1:n.N/AIntron Variant
AQP7 transcript variant X1XM_005251453.3:c.N/AIntron Variant
AQP7 transcript variant X4XM_006716765.3:c.N/AIntron Variant
AQP7 transcript variant X2XM_011517866.2:c.N/AIntron Variant
AQP7 transcript variant X5XM_011517867.2:c.N/AIntron Variant
AQP7 transcript variant X3XM_017014700.1:c.N/AIntron Variant
AQP7 transcript variant X8XM_017014701.1:c.N/AIntron Variant
AQP7 transcript variant X7XM_017014702.1:c.N/AIntron Variant
AQP7 transcript variant X8XM_017014703.1:c.N/AIntron Variant
AQP7 transcript variant X12XM_017014704.1:c.N/AIntron Variant
AQP7 transcript variant X10XM_017014705.1:c.N/AIntron Variant
AQP7 transcript variant X11XM_017014706.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.855T=0.145
1000GenomesAmericanSub694C=0.830T=0.170
1000GenomesEast AsianSub1008C=0.994T=0.006
1000GenomesEuropeSub1006C=0.897T=0.103
1000GenomesGlobalStudy-wide5008C=0.903T=0.097
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.893T=0.107
The Genome Aggregation DatabaseAfricanSub8666C=0.846T=0.154
The Genome Aggregation DatabaseAmericanSub838C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1608C=0.995T=0.005
The Genome Aggregation DatabaseEuropeSub18406C=0.887T=0.112
The Genome Aggregation DatabaseGlobalStudy-wide29820C=0.880T=0.119
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.876T=0.123
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.904T=0.096
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
rs172519870.000983alcohol dependence21314694

eQTL of rs17251987 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr9:33388289RP11-311H10.4ENSG00000223678.1C>T7.4186e-4-14566Cerebellum
Chr9:33388289AQP7ENSG00000165269.8C>T5.5429e-13-14354Frontal_Cortex_BA9
Chr9:33388289AQP7ENSG00000165269.8C>T4.3074e-10-14354Cortex
Chr9:33388289AQP7ENSG00000165269.8C>T8.4810e-15-14354Caudate_basal_ganglia
Chr9:33388289AQP7ENSG00000165269.8C>T9.3346e-4-14354Hippocampus
Chr9:33388289AQP7ENSG00000165269.8C>T5.7429e-5-14354Putamen_basal_ganglia
Chr9:33388289AQP7ENSG00000165269.8C>T4.6545e-5-14354Anterior_cingulate_cortex
Chr9:33388289AQP7ENSG00000165269.8C>T1.1697e-11-14354Nucleus_accumbens_basal_ganglia
Chr9:33388289AQP7ENSG00000165269.8C>T9.0777e-6-14354Amygdala

meQTL of rs17251987 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 )
chr93336468033364730E067-23559
chr93336395333364091E068-24198
chr93336468033364730E068-23559
chr93337479733376262E068-12027
chr93337479733376262E069-12027
chr93339105033392069E0692761
chr93336395333364091E071-24198
chr93337479733376262E071-12027
chr93339057733390627E0712288
chr93339067133390774E0712382
chr93339081633390916E0712527
chr93340252033402705E07114231
chr93340312633403225E07114837
chr93336395333364091E072-24198
chr93336468033364730E072-23559
chr93337203133372085E072-16204
chr93337209533372145E072-16144
chr93337479733376262E072-12027
chr93339105033392069E0722761
chr93339207033392165E0723781
chr93339219533392243E0723906
chr93343430133434544E07246012
chr93343454633434979E07246257
chr93339105033392069E0732761
chr93339207033392165E0733781
chr93339219533392243E0733906
chr93336395333364091E074-24198
chr93337479733376262E074-12027
chr93339105033392069E0742761
chr93339031733390485E0812028
chr93339057733390627E0812288
chr93339067133390774E0812382
chr93339081633390916E0812527
chr93339105033392069E0812761
chr93339031733390485E0822028
chr93339057733390627E0822288
chr93339067133390774E0822382
chr93339081633390916E0822527
chr93339105033392069E0822761