rs1598915

Homo sapiens
C>T
EPHA6 : Intron Variant
LOC101929278 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0273 (8194/29944,GnomAD)
C==0368 (10734/29118,TOPMED)
C==0328 (1642/5008,1000G)
C==0077 (297/3854,ALSPAC)
C==0078 (290/3708,TWINSUK)
chr3:97386708 (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.97386708C>T
GRCh37.p13 chr 3NC_000003.11:g.97105552C>T

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/AGenic Upstream Transcript Variant
EPHA6 transcript variant 2NM_173655.3:c.N/AGenic Upstream Transcript 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 X11XM_017006218.1:c.N/AIntron Variant
EPHA6 transcript variant X13XM_017006219.1:c.N/AIntron Variant
EPHA6 transcript variant X8XM_017006215.1:c.N/AGenic Upstream Transcript Variant
EPHA6 transcript variant X9XM_017006216.1:c.N/AGenic Upstream Transcript Variant
EPHA6 transcript variant X10XM_017006217.1:c.N/AGenic Upstream Transcript Variant
EPHA6 transcript variant X14XM_017006220.1:c.N/AGenic Upstream Transcript Variant
EPHA6 transcript variant X15XM_017006221.1:c.N/AGenic Upstream Transcript Variant
EPHA6 transcript variant X16XM_017006222.1:c.N/AGenic Upstream Transcript Variant
EPHA6 transcript variant X18XM_017006223.1:c.N/AGenic Upstream Transcript 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 X2XR_001740110.1:n.N/AIntron Variant
EPHA6 transcript variant X12XR_924126.2:n.N/AIntron Variant

Gene: LOC101929278, uncharacterized LOC101929278(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101929278 transcript variant X2XR_001740806.1:n.N/AIntron Variant
LOC101929278 transcript variant X6XR_001740807.1:n.N/AIntron Variant
LOC101929278 transcript variant X8XR_001740808.1:n.N/AIntron Variant
LOC101929278 transcript variant X10XR_001740809.1:n.N/AIntron Variant
LOC101929278 transcript variant X4XR_924236.2:n.N/AIntron Variant
LOC101929278 transcript variant X3XR_924240.2:n.N/AIntron Variant
LOC101929278 transcript variant X5XR_924244.2:n.N/AIntron Variant
LOC101929278 transcript variant X1XR_241524.4:n.N/AGenic Downstream Transcript Variant
LOC101929278 transcript variant X7XR_924242.2:n.N/AGenic Downstream Transcript Variant
LOC101929278 transcript variant X9XR_924247.2:n.N/AGenic Downstream Transcript Variant
LOC101929278 transcript variant X11XR_924249.2:n.N/AGenic Downstream Transcript Variant
LOC101929278 transcript variant X12XR_924250.2:n.N/AGenic Downstream Transcript Variant
LOC101929278 transcript variant X13XR_924251.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.802T=0.198
1000GenomesAmericanSub694C=0.350T=0.650
1000GenomesEast AsianSub1008C=0.125T=0.875
1000GenomesEuropeSub1006C=0.086T=0.914
1000GenomesGlobalStudy-wide5008C=0.328T=0.672
1000GenomesSouth AsianSub978C=0.130T=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.077T=0.923
The Genome Aggregation DatabaseAfricanSub8708C=0.695T=0.305
The Genome Aggregation DatabaseAmericanSub838C=0.370T=0.630
The Genome Aggregation DatabaseEast AsianSub1616C=0.118T=0.882
The Genome Aggregation DatabaseEuropeSub18480C=0.087T=0.912
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.273T=0.726
The Genome Aggregation DatabaseOtherSub302C=0.070T=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.368T=0.631
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.078T=0.922
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
rs15989150.000915alcohol consumption (maxi-drinks)24277619

eQTL of rs1598915 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 rs1598915 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.