rs1887671

Homo sapiens
T>C
CCDC171 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0060 (1799/30000,GnomAD)
T==0035 (1045/29118,TOPMED)
T==0060 (301/5008,1000G)
T==0070 (268/3854,ALSPAC)
T==0068 (251/3708,TWINSUK)
chr9:16035674 (GRCh38.p7) (9p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.16035674T>C
GRCh37.p13 chr 9NC_000009.11:g.16035672T>C

Gene: CCDC171, coiled-coil domain containing 171(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CCDC171 transcriptNM_173550.2:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X2XM_005251397.2:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X1XM_005251398.3:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X3XM_005251399.4:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X4XM_011517788.2:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X8XM_011517791.2:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X22XM_011517796.2:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X5XM_017014431.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X6XM_017014432.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X7XM_017014433.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X9XM_017014434.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X11XM_017014435.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X12XM_017014436.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X13XM_017014437.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X15XM_017014438.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X16XM_017014439.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X16XM_017014440.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X18XM_017014441.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X20XM_017014442.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X20XM_017014443.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X23XM_017014444.1:c.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X10XR_001746227.1:n.N/AIntron Variant
CCDC171 transcript variant X14XR_001746228.1:n.N/AGenic Downstream Transcript Variant
CCDC171 transcript variant X19XR_001746229.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.005C=0.995
1000GenomesAmericanSub694T=0.030C=0.970
1000GenomesEast AsianSub1008T=0.065C=0.935
1000GenomesEuropeSub1006T=0.056C=0.944
1000GenomesGlobalStudy-wide5008T=0.060C=0.940
1000GenomesSouth AsianSub978T=0.150C=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.070C=0.930
The Genome Aggregation DatabaseAfricanSub8732T=0.018C=0.982
The Genome Aggregation DatabaseAmericanSub838T=0.040C=0.960
The Genome Aggregation DatabaseEast AsianSub1620T=0.065C=0.935
The Genome Aggregation DatabaseEuropeSub18508T=0.080C=0.919
The Genome Aggregation DatabaseGlobalStudy-wide30000T=0.060C=0.940
The Genome Aggregation DatabaseOtherSub302T=0.040C=0.960
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.035C=0.964
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.068C=0.932
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
rs18876710.000806alcohol dependence21314694

eQTL of rs1887671 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 rs1887671 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 )
chr91603908616039184E0683414
chr91603920816039841E0733536
chr91603984316039888E0734171
chr91603995816040068E0734286
chr91604012116040263E0734449
chr91603920816039841E0743536
chr91603155916031772E081-3900
chr91603181416031868E081-3804
chr91603187016031924E081-3748
chr91606913116069239E08133459
chr91606926016069379E08133588
chr91606939216069522E08133720
chr91606953716069590E08133865
chr91603181416031868E082-3804
chr91603187016031924E082-3748
chr91603196216032332E082-3340