rs324556

Homo sapiens
G>T
CCDC191 : Intron Variant
LOC105374048 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0252 (7560/29890,GnomAD)
T=0227 (6626/29118,TOPMED)
T=0252 (1262/5008,1000G)
T=0305 (1175/3854,ALSPAC)
T=0312 (1158/3708,TWINSUK)
chr3:114012440 (GRCh38.p7) (3q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.114012440G>T
GRCh37.p13 chr 3NC_000003.11:g.113731287G>T

Gene: CCDC191, coiled-coil domain containing 191(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CCDC191 transcript variant 1NM_020817.1:c.N/AIntron Variant
CCDC191 transcript variant X7XM_005247681.3:c.N/AIntron Variant
CCDC191 transcript variant X1XM_006713715.1:c.N/AIntron Variant
CCDC191 transcript variant X3XM_011513051.1:c.N/AIntron Variant
CCDC191 transcript variant X2XM_011513052.2:c.N/AIntron Variant
CCDC191 transcript variant X3XM_011513053.1:c.N/AIntron Variant
CCDC191 transcript variant X5XM_011513054.2:c.N/AIntron Variant
CCDC191 transcript variant X2XM_017006956.1:c.N/AIntron Variant
CCDC191 transcript variant X4XM_017006957.1:c.N/AIntron Variant
CCDC191 transcript variant X8XM_017006958.1:c.N/AIntron Variant
CCDC191 transcript variant X9XM_017006959.1:c.N/AIntron Variant
CCDC191 transcript variant X9XR_001740222.1:n.N/AIntron Variant

Gene: LOC105374048, uncharacterized LOC105374048(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374048 transcriptXR_924347.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.890T=0.110
1000GenomesAmericanSub694G=0.720T=0.280
1000GenomesEast AsianSub1008G=0.725T=0.275
1000GenomesEuropeSub1006G=0.658T=0.342
1000GenomesGlobalStudy-wide5008G=0.748T=0.252
1000GenomesSouth AsianSub978G=0.690T=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.695T=0.305
The Genome Aggregation DatabaseAfricanSub8708G=0.866T=0.134
The Genome Aggregation DatabaseAmericanSub838G=0.690T=0.310
The Genome Aggregation DatabaseEast AsianSub1610G=0.751T=0.249
The Genome Aggregation DatabaseEuropeSub18432G=0.694T=0.305
The Genome Aggregation DatabaseGlobalStudy-wide29890G=0.747T=0.252
The Genome Aggregation DatabaseOtherSub302G=0.640T=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.772T=0.227
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.688T=0.312
PMID Title Author Journal
22072270Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.Wang KSJ Neural Transm (Vienna)

P-Value

SNP ID p-value Traits Study
rs3245563.16E-05alcohol withdrawal symptoms22072270

eQTL of rs324556 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 rs324556 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 )
chr3113729626113729717E067-1570
chr3113774259113774309E06842972
chr3113774259113774309E06942972
chr3113774259113774309E07042972
chr3113774259113774309E07142972
chr3113774259113774309E07242972
chr3113774259113774309E07342972
chr3113774259113774309E07442972








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3113774553113774825E06743266
chr3113774875113776224E06743588
chr3113776381113776463E06745094
chr3113774553113774825E06843266
chr3113774875113776224E06843588
chr3113776381113776463E06845094
chr3113774553113774825E06943266
chr3113774875113776224E06943588
chr3113776381113776463E06945094
chr3113774553113774825E07043266
chr3113774875113776224E07043588
chr3113776381113776463E07045094
chr3113774553113774825E07143266
chr3113774875113776224E07143588
chr3113776381113776463E07145094
chr3113774553113774825E07243266
chr3113774875113776224E07243588
chr3113776381113776463E07245094
chr3113774553113774825E07343266
chr3113774875113776224E07343588
chr3113776381113776463E07345094
chr3113774553113774825E07443266
chr3113774875113776224E07443588
chr3113776381113776463E07445094
chr3113774553113774825E08143266
chr3113774875113776224E08143588
chr3113776381113776463E08145094
chr3113774553113774825E08243266
chr3113774875113776224E08243588
chr3113776381113776463E08245094