rs7727798

Homo sapiens
T>C
DNAH5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0066 (1989/29962,GnomAD)
C=0088 (2573/29118,TOPMED)
C=0103 (514/5008,1000G)
C=0008 (30/3854,ALSPAC)
C=0008 (29/3708,TWINSUK)
chr5:13993421 (GRCh38.p7) (5p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
38 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.13993421T>C
GRCh37.p13 chr 5NC_000005.9:g.13993530T>C

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

Molecule type Change Amino acid[Codon] SO Term
DNAH5 transcriptNM_001369.2:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X1XM_005248262.3:c.N/AIntron Variant
DNAH5 transcript variant X2XM_017009177.1: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 X16XM_017009187.1:c.N/AIntron Variant
DNAH5 transcript variant X4XM_017009178.1:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X4XM_017009179.1:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X12XM_017009185.1:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X15XM_017009186.1:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X17XM_017009188.1:c.N/AGenic Upstream Transcript 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=0.826C=0.174
1000GenomesAmericanSub694T=0.970C=0.030
1000GenomesEast AsianSub1008T=0.803C=0.197
1000GenomesEuropeSub1006T=0.991C=0.009
1000GenomesGlobalStudy-wide5008T=0.897C=0.103
1000GenomesSouth AsianSub978T=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.992C=0.008
The Genome Aggregation DatabaseAfricanSub8708T=0.835C=0.165
The Genome Aggregation DatabaseAmericanSub838T=0.980C=0.020
The Genome Aggregation DatabaseEast AsianSub1618T=0.798C=0.202
The Genome Aggregation DatabaseEuropeSub18496T=0.989C=0.010
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.933C=0.066
The Genome Aggregation DatabaseOtherSub302T=0.960C=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.911C=0.088
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.992C=0.008
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
rs77277980.00062alcohol dependence20201924

eQTL of rs7727798 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 rs7727798 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 )
chr51401249514012545E06718965
chr51394499113945199E068-48331
chr51394522013945375E068-48155
chr51394586913946057E068-47473
chr51394630313946575E068-46955
chr51397757713977985E068-15545
chr51403551814035631E06841988
chr51394499113945199E069-48331
chr51394522013945375E069-48155
chr51394586913946057E069-47473
chr51394630313946575E069-46955
chr51394658413946778E069-46752
chr51394389913944049E070-49481
chr51394499113945199E070-48331
chr51394522013945375E070-48155
chr51394586913946057E070-47473
chr51394630313946575E070-46955
chr51394658413946778E070-46752
chr51403563614037739E07142106
chr51394389913944049E081-49481
chr51394499113945199E081-48331
chr51394522013945375E081-48155
chr51394586913946057E081-47473
chr51394630313946575E081-46955
chr51394658413946778E081-46752
chr51395707813957128E081-36402
chr51395720013957502E081-36028
chr51401995614020362E08126426
chr51402048414020565E08126954
chr51403551814035631E08141988
chr51403563614037739E08142106
chr51394499113945199E082-48331
chr51394522013945375E082-48155
chr51394586913946057E082-47473
chr51394630313946575E082-46955
chr51394658413946778E082-46752
chr51401692414017005E08223394
chr51401735014017413E08223820







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr51401103814011116E06717508
chr51401115714012305E06717627
chr51401103814011116E06817508
chr51401115714012305E06817627
chr51401103814011116E06917508
chr51401115714012305E06917627
chr51401103814011116E07017508
chr51401115714012305E07017627
chr51401103814011116E07117508
chr51401115714012305E07117627
chr51401103814011116E07217508
chr51401115714012305E07217627
chr51401103814011116E07317508
chr51401115714012305E07317627
chr51401103814011116E07417508
chr51401115714012305E07417627
chr51401103814011116E08117508
chr51401115714012305E08117627
chr51401103814011116E08217508
chr51401115714012305E08217627