rs17374436

Homo sapiens
T>C
DYNC2H1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0045 (1353/29920,GnomAD)
C=0039 (1140/29118,TOPMED)
C=0031 (155/5008,1000G)
C=0072 (278/3854,ALSPAC)
C=0072 (267/3708,TWINSUK)
chr11:103185951 (GRCh38.p7) (11q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.103185951T>C
GRCh37.p13 chr 11NC_000011.9:g.103056680T>C
DYNC2H1 RefSeqGeneNG_016423.1:g.81521T>C

Gene: DYNC2H1, dynein cytoplasmic 2 heavy chain 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DYNC2H1 transcript variant 2NM_001080463.1:c.N/AIntron Variant
DYNC2H1 transcript variant 1NM_001377.2:c.N/AIntron Variant
DYNC2H1 transcript variant X1XM_006718903.2:c.N/AIntron Variant
DYNC2H1 transcript variant X2XM_017018291.1:c.N/AIntron Variant
DYNC2H1 transcript variant X3XM_017018292.1:c.N/AIntron Variant
DYNC2H1 transcript variant X4XM_017018293.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.997C=0.003
1000GenomesAmericanSub694T=0.970C=0.030
1000GenomesEast AsianSub1008T=0.999C=0.001
1000GenomesEuropeSub1006T=0.940C=0.060
1000GenomesGlobalStudy-wide5008T=0.969C=0.031
1000GenomesSouth AsianSub978T=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.928C=0.072
The Genome Aggregation DatabaseAfricanSub8726T=0.986C=0.014
The Genome Aggregation DatabaseAmericanSub834T=0.980C=0.020
The Genome Aggregation DatabaseEast AsianSub1610T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18448T=0.935C=0.064
The Genome Aggregation DatabaseGlobalStudy-wide29920T=0.954C=0.045
The Genome Aggregation DatabaseOtherSub302T=0.910C=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.960C=0.039
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.928C=0.072
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs173744360.00082alcohol dependence20201924

eQTL of rs17374436 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 rs17374436 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.