rs6795420

Homo sapiens
A>G
EPHA6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0262 (7803/29734,GnomAD)
G=0337 (9821/29118,TOPMED)
G=0299 (1496/5008,1000G)
G=0097 (373/3854,ALSPAC)
G=0101 (374/3708,TWINSUK)
chr3:97496739 (GRCh38.p7) (3q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.97496739A>G
GRCh37.p13 chr 3NC_000003.11:g.97215583A>G

Gene: EPHA6, EPH receptor A6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EPHA6 transcript variant 1NM_001080448.2:c.N/AIntron Variant
EPHA6 transcript variant 3NM_001278300.1:c.N/AIntron Variant
EPHA6 transcript variant 2NM_173655.3:c.N/AIntron Variant
EPHA6 transcript variant 4NM_001278301.1:c.N/AGenic Downstream Transcript Variant
EPHA6 transcript variant X1XM_006713592.3:c.N/AIntron Variant
EPHA6 transcript variant X3XM_017006210.1:c.N/AIntron Variant
EPHA6 transcript variant X4XM_017006211.1:c.N/AIntron Variant
EPHA6 transcript variant X5XM_017006212.1:c.N/AIntron Variant
EPHA6 transcript variant X6XM_017006213.1:c.N/AIntron Variant
EPHA6 transcript variant X7XM_017006214.1:c.N/AIntron Variant
EPHA6 transcript variant X8XM_017006215.1:c.N/AIntron Variant
EPHA6 transcript variant X9XM_017006216.1:c.N/AIntron Variant
EPHA6 transcript variant X10XM_017006217.1:c.N/AIntron Variant
EPHA6 transcript variant X11XM_017006218.1:c.N/AIntron Variant
EPHA6 transcript variant X14XM_017006220.1:c.N/AIntron Variant
EPHA6 transcript variant X15XM_017006221.1:c.N/AIntron Variant
EPHA6 transcript variant X16XM_017006222.1:c.N/AIntron Variant
EPHA6 transcript variant X18XM_017006223.1:c.N/AIntron Variant
EPHA6 transcript variant X15XM_011512705.2:c.N/AGenic Downstream Transcript Variant
EPHA6 transcript variant X16XM_011512706.2:c.N/AGenic Downstream Transcript Variant
EPHA6 transcript variant X17XM_011512707.2:c.N/AGenic Downstream Transcript Variant
EPHA6 transcript variant X13XM_017006219.1:c.N/AGenic Downstream Transcript Variant
EPHA6 transcript variant X2XR_001740110.1:n.N/AIntron Variant
EPHA6 transcript variant X12XR_924126.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.281G=0.719
1000GenomesAmericanSub694A=0.680G=0.320
1000GenomesEast AsianSub1008A=0.886G=0.114
1000GenomesEuropeSub1006A=0.908G=0.092
1000GenomesGlobalStudy-wide5008A=0.701G=0.299
1000GenomesSouth AsianSub978A=0.880G=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.903G=0.097
The Genome Aggregation DatabaseAfricanSub8642A=0.371G=0.629
The Genome Aggregation DatabaseAmericanSub836A=0.640G=0.360
The Genome Aggregation DatabaseEast AsianSub1610A=0.883G=0.117
The Genome Aggregation DatabaseEuropeSub18344A=0.898G=0.101
The Genome Aggregation DatabaseGlobalStudy-wide29734A=0.737G=0.262
The Genome Aggregation DatabaseOtherSub302A=0.920G=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.662G=0.337
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.899G=0.101
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
rs67954200.000789alcohol consumption (maxi-drinks)24277619

eQTL of rs6795420 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 rs6795420 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.