rs16902820

Homo sapiens
T>C / T>G
DNAH5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0145 (4358/29960,GnomAD)
G=0135 (674/5008,1000G)
G=0152 (585/3854,ALSPAC)
G=0155 (573/3708,TWINSUK)
chr5:13834597 (GRCh38.p7) (5p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.13834597T>C
GRCh38.p7 chr 5NC_000005.10:g.13834597T>G
GRCh37.p13 chr 5NC_000005.9:g.13834706T>C
GRCh37.p13 chr 5NC_000005.9:g.13834706T>G
DNAH5 RefSeqGeneNG_013081.1:g.114884A>G
DNAH5 RefSeqGeneNG_013081.1:g.114884A>C

Gene: DNAH5, dynein axonemal heavy chain 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DNAH5 transcriptNM_001369.2:c.N/AIntron Variant
DNAH5 transcript variant X1XM_005248262.3:c.N/AIntron Variant
DNAH5 transcript variant X2XM_017009177.1:c.N/AIntron Variant
DNAH5 transcript variant X4XM_017009178.1:c.N/AIntron Variant
DNAH5 transcript variant X4XM_017009179.1:c.N/AIntron Variant
DNAH5 transcript variant X6XM_017009180.1:c.N/AIntron Variant
DNAH5 transcript variant X8XM_017009181.1:c.N/AIntron Variant
DNAH5 transcript variant X9XM_017009182.1:c.N/AIntron Variant
DNAH5 transcript variant X10XM_017009183.1:c.N/AIntron Variant
DNAH5 transcript variant X11XM_017009184.1:c.N/AIntron Variant
DNAH5 transcript variant X12XM_017009185.1:c.N/AIntron Variant
DNAH5 transcript variant X15XM_017009186.1:c.N/AIntron Variant
DNAH5 transcript variant X16XM_017009187.1:c.N/AIntron Variant
DNAH5 transcript variant X17XM_017009188.1:c.N/A5 Prime UTR Variant
DNAH5 transcript variant X13XR_001742034.1:n.N/AIntron Variant
DNAH5 transcript variant X14XR_001742035.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.900G=0.100
1000GenomesAmericanSub694T=0.790G=0.210
1000GenomesEast AsianSub1008T=0.900G=0.100
1000GenomesEuropeSub1006T=0.844G=0.156
1000GenomesGlobalStudy-wide5008T=0.865G=0.135
1000GenomesSouth AsianSub978T=0.860G=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.848G=0.152
The Genome Aggregation DatabaseAfricanSub8726T=0.871G=0.129
The Genome Aggregation DatabaseAmericanSub836T=0.810G=0.190
The Genome Aggregation DatabaseEast AsianSub1622T=0.883G=0.117
The Genome Aggregation DatabaseEuropeSub18474T=0.847G=0.152
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.854G=0.145
The Genome Aggregation DatabaseOtherSub302T=0.760G=0.240
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.845G=0.155
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
rs169028200.000966alcohol dependence21314694

eQTL of rs16902820 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 rs16902820 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 )
chr57978254679782732E067-5103
chr57978279479783053E067-4782
chr57978254679782732E068-5103
chr57978279479783053E068-4782
chr57980603379806084E06818198
chr57978254679782732E069-5103
chr57978279479783053E069-4782
chr57973872479738788E071-49047
chr57980566579805796E07117830
chr57980603379806084E07118198
chr57978254679782732E072-5103
chr57978279479783053E072-4782
chr57978279479783053E073-4782
chr57980603379806084E07418198







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr57978346079784619E067-3216
chr57978466079784732E067-3103
chr57978323579783302E068-4533
chr57978346079784619E068-3216
chr57978466079784732E068-3103
chr57978323579783302E069-4533
chr57978346079784619E069-3216
chr57978466079784732E069-3103
chr57978323579783302E070-4533
chr57978346079784619E070-3216
chr57978466079784732E070-3103
chr57978323579783302E071-4533
chr57978346079784619E071-3216
chr57978466079784732E071-3103
chr57978346079784619E072-3216
chr57978466079784732E072-3103
chr57978323579783302E073-4533
chr57978346079784619E073-3216
chr57978466079784732E073-3103
chr57978346079784619E074-3216
chr57978466079784732E074-3103
chr57978346079784619E081-3216
chr57978323579783302E082-4533
chr57978346079784619E082-3216
chr57978466079784732E082-3103