rs9639395

Homo sapiens
G>A / G>C
DNAH11 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0283 (8479/29908,GnomAD)
G==0299 (8705/29118,TOPMED)
G==0351 (1757/5008,1000G)
chr7:21740047 (GRCh38.p7) (7p15.3)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
36 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.21740047G>A
GRCh38.p7 chr 7NC_000007.14:g.21740047G>C
GRCh37.p13 chr 7NC_000007.13:g.21779665G>A
GRCh37.p13 chr 7NC_000007.13:g.21779665G>C
DNAH11 RefSeqGeneNG_012886.2:g.201833G>A
DNAH11 RefSeqGeneNG_012886.2:g.201833G>C

Gene: DNAH11, dynein axonemal heavy chain 11(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DNAH11 transcriptNM_001277115.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.361A=0.639
1000GenomesAmericanSub694G=0.380A=0.620
1000GenomesEast AsianSub1008G=0.397A=0.603
1000GenomesEuropeSub1006G=0.249A=0.751
1000GenomesGlobalStudy-wide5008G=0.351A=0.649
1000GenomesSouth AsianSub978G=0.380A=0.620
The Genome Aggregation DatabaseAfricanSub8706G=0.347C=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.410C=0.00,
The Genome Aggregation DatabaseEast AsianSub1608G=0.374C=0.000
The Genome Aggregation DatabaseEuropeSub18456G=0.238C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29908G=0.283C=0.000
The Genome Aggregation DatabaseOtherSub300G=0.360C=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.299A=0.701
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs96393950.000197alcohol consumption (maxi-drinks)24277619

eQTL of rs9639395 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 rs9639395 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 )
chr78278469082784781E073-46530

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr78279064482790784E067-40527
chr78279079882790866E067-40445
chr78279092682792724E067-38587
chr78279272982792801E067-38510
chr78278917282789286E068-42025
chr78279064482790784E068-40527
chr78279079882790866E068-40445
chr78279092682792724E068-38587
chr78279272982792801E068-38510
chr78279302382793136E068-38175
chr78279064482790784E069-40527
chr78279079882790866E069-40445
chr78279092682792724E069-38587
chr78279092682792724E070-38587
chr78279272982792801E070-38510
chr78279064482790784E071-40527
chr78279079882790866E071-40445
chr78279092682792724E071-38587
chr78278917282789286E072-42025
chr78279064482790784E072-40527
chr78279079882790866E072-40445
chr78279092682792724E072-38587
chr78279064482790784E073-40527
chr78279079882790866E073-40445
chr78279092682792724E073-38587
chr78279272982792801E073-38510
chr78279302382793136E073-38175
chr78279092682792724E074-38587
chr78279272982792801E074-38510
chr78279064482790784E081-40527
chr78279079882790866E081-40445
chr78279092682792724E081-38587
chr78279064482790784E082-40527
chr78279079882790866E082-40445
chr78279092682792724E082-38587
chr78279272982792801E082-38510