rs4714198

Homo sapiens
C>A
DNAH8 : Intron Variant
LOC100131047 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0485 (14535/29924,GnomAD)
C==0469 (13663/29118,TOPMED)
A=0493 (2471/5008,1000G)
A=0448 (1727/3854,ALSPAC)
A=0441 (1637/3708,TWINSUK)
chr6:38909829 (GRCh38.p7) (6p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.38909829C>A
GRCh37.p13 chr 6NC_000006.11:g.38877605C>A
DNAH8 RefSeqGeneNG_041805.1:g.199489C>A

Gene: DNAH8, dynein axonemal heavy chain 8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DNAH8 transcript variant 1NM_001206927.1:c.N/AIntron Variant
DNAH8 transcript variant X1XM_011514318.2:c.N/AIntron Variant
DNAH8 transcript variant X2XM_011514319.2:c.N/AIntron Variant
DNAH8 transcript variant X3XM_011514320.2:c.N/AIntron Variant
DNAH8 transcript variant X5XM_011514321.1:c.N/AIntron Variant
DNAH8 transcript variant X6XM_017010325.1:c.N/AIntron Variant
DNAH8 transcript variant X7XM_017010326.1:c.N/AIntron Variant
DNAH8 transcript variant X8XM_017010327.1:c.N/AGenic Downstream Transcript Variant
DNAH8 transcript variant X4XR_926078.2:n.N/AIntron Variant
DNAH8 transcript variant X9XR_001743188.1:n.N/AGenic Downstream Transcript Variant

Gene: LOC100131047, uncharacterized LOC100131047(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100131047 transcriptNR_038401.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.244A=0.756
1000GenomesAmericanSub694C=0.590A=0.410
1000GenomesEast AsianSub1008C=0.516A=0.484
1000GenomesEuropeSub1006C=0.563A=0.437
1000GenomesGlobalStudy-wide5008C=0.507A=0.493
1000GenomesSouth AsianSub978C=0.730A=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.552A=0.448
The Genome Aggregation DatabaseAfricanSub8706C=0.310A=0.690
The Genome Aggregation DatabaseAmericanSub838C=0.660A=0.340
The Genome Aggregation DatabaseEast AsianSub1616C=0.480A=0.520
The Genome Aggregation DatabaseEuropeSub18462C=0.560A=0.440
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.485A=0.514
The Genome Aggregation DatabaseOtherSub302C=0.580A=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.469A=0.530
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.559A=0.441
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs47141980.000665alcohol dependence21314694

eQTL of rs4714198 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 rs4714198 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 )
chr63884381338843901E068-33704
chr63892364638923921E06846041
chr63882876138828815E070-48790
chr63890300338903077E07025398
chr63890151638901575E07123911