rs6434799

Homo sapiens
C>T
DNAH7 : Intron Variant
LOC105373819 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0288 (8633/29970,GnomAD)
C==0294 (8563/29116,TOPMED)
C==0328 (1645/5008,1000G)
C==0262 (1009/3854,ALSPAC)
C==0249 (925/3708,TWINSUK)
chr2:195800359 (GRCh38.p7) (2q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.195800359C>T
GRCh37.p13 chr 2NC_000002.11:g.196665083C>T

Gene: DNAH7, dynein axonemal heavy chain 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DNAH7 transcriptNM_018897.2:c.N/AIntron Variant
DNAH7 transcript variant X1XM_011511487.2:c.N/AIntron Variant
DNAH7 transcript variant X2XM_011511488.2:c.N/AIntron Variant
DNAH7 transcript variant X2XM_011511489.2:c.N/AIntron Variant
DNAH7 transcript variant X4XM_011511490.2:c.N/AIntron Variant
DNAH7 transcript variant X11XM_011511497.2:c.N/AIntron Variant
DNAH7 transcript variant X5XM_017004504.1:c.N/AIntron Variant
DNAH7 transcript variant X6XM_011511491.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X7XM_011511492.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X8XM_011511493.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X10XM_011511494.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X11XM_011511495.2:c.N/AGenic Downstream Transcript Variant
DNAH7 transcript variant X9XR_922968.2:n.N/AGenic Downstream Transcript Variant

Gene: LOC105373819, uncharacterized LOC105373819(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373819 transcriptXR_923736.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.259T=0.741
1000GenomesAmericanSub694C=0.380T=0.620
1000GenomesEast AsianSub1008C=0.350T=0.650
1000GenomesEuropeSub1006C=0.274T=0.726
1000GenomesGlobalStudy-wide5008C=0.328T=0.672
1000GenomesSouth AsianSub978C=0.420T=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.262T=0.738
The Genome Aggregation DatabaseAfricanSub8730C=0.278T=0.722
The Genome Aggregation DatabaseAmericanSub834C=0.360T=0.640
The Genome Aggregation DatabaseEast AsianSub1612C=0.367T=0.633
The Genome Aggregation DatabaseEuropeSub18492C=0.280T=0.719
The Genome Aggregation DatabaseGlobalStudy-wide29970C=0.288T=0.711
The Genome Aggregation DatabaseOtherSub302C=0.430T=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.294T=0.705
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.249T=0.751
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
rs64347990.00048alcohol dependence20201924

eQTL of rs6434799 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:196665083SLC39A10ENSG00000196950.9C>T9.2991e-9224382Cerebellum

meQTL of rs6434799 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 )
chr2196675576196675812E07010493