rs885247

Homo sapiens
T>C
KCNQ5 : Intron Variant
LOC105377855 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0163 (4905/29976,GnomAD)
C=0119 (3483/29118,TOPMED)
C=0164 (820/5008,1000G)
C=0160 (618/3854,ALSPAC)
C=0160 (593/3708,TWINSUK)
chr6:72950511 (GRCh38.p7) (6q13)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.72950511T>C
GRCh37.p13 chr 6NC_000006.11:g.73660234T>C

Gene: KCNQ5, potassium voltage-gated channel subfamily Q member 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNQ5 transcript variant 2NM_001160130.1:c.N/AIntron Variant
KCNQ5 transcript variant 3NM_001160132.1:c.N/AIntron Variant
KCNQ5 transcript variant 4NM_001160133.1:c.N/AIntron Variant
KCNQ5 transcript variant 5NM_001160134.1:c.N/AIntron Variant
KCNQ5 transcript variant 1NM_019842.3:c.N/AIntron Variant
KCNQ5 transcript variant X1XM_017011058.1:c.N/AIntron Variant

Gene: LOC105377855, uncharacterized LOC105377855(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377855 transcript variant X1XR_001744198.1:n.N/AIntron Variant
LOC105377855 transcript variant X2XR_001744199.1:n.N/AIntron Variant
LOC105377855 transcript variant X3XR_942686.2:n.N/AIntron Variant
LOC105377855 transcriptXR_942688.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.915C=0.085
1000GenomesAmericanSub694T=0.850C=0.150
1000GenomesEast AsianSub1008T=0.732C=0.268
1000GenomesEuropeSub1006T=0.854C=0.146
1000GenomesGlobalStudy-wide5008T=0.836C=0.164
1000GenomesSouth AsianSub978T=0.810C=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.840C=0.160
The Genome Aggregation DatabaseAfricanSub8726T=0.904C=0.096
The Genome Aggregation DatabaseAmericanSub836T=0.850C=0.150
The Genome Aggregation DatabaseEast AsianSub1616T=0.744C=0.256
The Genome Aggregation DatabaseEuropeSub18496T=0.810C=0.189
The Genome Aggregation DatabaseGlobalStudy-wide29976T=0.836C=0.163
The Genome Aggregation DatabaseOtherSub302T=0.940C=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.880C=0.119
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.840C=0.160
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs8852471.99E-06alcohol dependence23089632

eQTL of rs885247 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 rs885247 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 )
chr67368594473686011E07425710
chr67368626473686591E07426030
chr67368692873687132E07426694
chr67364124873641598E081-18636
chr67364169873642047E081-18187
chr67364215273642231E081-18003
chr67366339573663606E0813161
chr67366365173664101E0813417
chr67366416873664857E0813934
chr67366489473664965E0814660
chr67366553373665626E0815299
chr67364169873642047E082-18187
chr67364215273642231E082-18003
chr67366416873664857E0823934
chr67366489473664965E0824660
chr67366553373665626E0825299