rs6881619

Homo sapiens
T>C
EFNA5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0143 (4307/29922,GnomAD)
C=0188 (5496/29118,TOPMED)
C=0133 (668/5008,1000G)
C=0081 (314/3854,ALSPAC)
C=0085 (315/3708,TWINSUK)
chr5:107573359 (GRCh38.p7) (5q21.3)
ND
GWASdb2
1   publication(s)
See rs on genome
94 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.107573359T>C
GRCh37.p13 chr 5NC_000005.9:g.106909060T>C

Gene: EFNA5, ephrin A5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EFNA5 transcriptNM_001962.2:c.N/AIntron Variant
EFNA5 transcript variant X2XM_006714565.2:c.N/AIntron Variant
EFNA5 transcript variant X1XM_011543250.2:c.N/AGenic Upstream Transcript Variant
EFNA5 transcript variant X3XM_011543251.2:c.N/AGenic Upstream Transcript Variant
EFNA5 transcript variant X4XM_017009205.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.623C=0.377
1000GenomesAmericanSub694T=0.920C=0.080
1000GenomesEast AsianSub1008T=0.991C=0.009
1000GenomesEuropeSub1006T=0.930C=0.070
1000GenomesGlobalStudy-wide5008T=0.867C=0.133
1000GenomesSouth AsianSub978T=0.970C=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.919C=0.081
The Genome Aggregation DatabaseAfricanSub8692T=0.694C=0.306
The Genome Aggregation DatabaseAmericanSub838T=0.940C=0.060
The Genome Aggregation DatabaseEast AsianSub1618T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18472T=0.915C=0.084
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.856C=0.143
The Genome Aggregation DatabaseOtherSub302T=0.870C=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.811C=0.188
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.915C=0.085
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs68816193.24E-05alcohol and nictotine co-dependence20158304

eQTL of rs6881619 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 rs6881619 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 )
chr5106873862106875170E067-33890
chr5106916630106916903E0677570
chr5106917012106917153E0677952
chr5106917224106917436E0678164
chr5106928344106928558E06719284
chr5106928726106929149E06719666
chr5106929198106929248E06720138
chr5106881364106881455E068-27605
chr5106881595106881646E068-27414
chr5106881896106882409E068-26651
chr5106882625106883019E068-26041
chr5106905673106905859E068-3201
chr5106905894106906160E068-2900
chr5106906220106906285E068-2775
chr5106928344106928558E06819284
chr5106928726106929149E06819666
chr5106881364106881455E069-27605
chr5106881595106881646E069-27414
chr5106881896106882409E069-26651
chr5106882625106883019E069-26041
chr5106905894106906160E069-2900
chr5106906220106906285E069-2775
chr5106928344106928558E06919284
chr5106928726106929149E06919666
chr5106929198106929248E06920138
chr5106930038106930256E06920978
chr5106901670106901744E070-7316
chr5106905673106905859E070-3201
chr5106905894106906160E070-2900
chr5106906220106906285E070-2775
chr5106951129106951277E07042069
chr5106951307106951536E07042247
chr5106952278106952344E07043218
chr5106881896106882409E071-26651
chr5106882625106883019E071-26041
chr5106928726106929149E07119666
chr5106929198106929248E07120138
chr5106881896106882409E072-26651
chr5106882625106883019E072-26041
chr5106883144106883213E072-25847
chr5106905894106906160E072-2900
chr5106906220106906285E072-2775
chr5106928344106928558E07219284
chr5106928726106929149E07219666
chr5106929198106929248E07220138
chr5106930038106930256E07220978
chr5106881364106881455E073-27605
chr5106905673106905859E073-3201
chr5106905894106906160E073-2900
chr5106906220106906285E073-2775
chr5106928344106928558E07319284
chr5106928726106929149E07319666
chr5106929198106929248E07320138
chr5106930038106930256E07320978
chr5106930553106930642E07321493
chr5106951129106951277E07342069
chr5106881896106882409E074-26651
chr5106882625106883019E074-26041
chr5106928344106928558E07419284
chr5106928726106929149E07419666
chr5106905894106906160E081-2900
chr5106906220106906285E081-2775
chr5106908918106909413E0810
chr5106928344106928558E08119284
chr5106928726106929149E08119666
chr5106929198106929248E08120138
chr5106938577106938980E08129517
chr5106939160106939248E08130100
chr5106939344106939484E08130284
chr5106939603106939688E08130543
chr5106939972106940044E08130912
chr5106940116106941010E08131056
chr5106941397106941587E08132337
chr5106941667106941781E08132607
chr5106941932106941995E08132872
chr5106942107106942166E08133047
chr5106943008106943094E08133948
chr5106943363106944039E08134303
chr5106944316106944426E08135256
chr5106952278106952344E08143218
chr5106956096106956146E08147036
chr5106905673106905859E082-3201
chr5106905894106906160E082-2900
chr5106906220106906285E082-2775
chr5106928344106928558E08219284
chr5106928726106929149E08219666
chr5106929198106929248E08220138
chr5106938577106938980E08229517
chr5106939160106939248E08230100
chr5106939344106939484E08230284
chr5106939603106939688E08230543
chr5106943008106943094E08233948
chr5106943363106944039E08234303
chr5106944316106944426E08235256