SNP Detail Info-rs2073290

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 20	NC_000020.11:g.13849491A>C
GRCh38.p7 chr 20	NC_000020.11:g.13849491A>T
GRCh37.p13 chr 20	NC_000020.10:g.13830137A>C
GRCh37.p13 chr 20	NC_000020.10:g.13830137A>T

Gene: SEL1L2, SEL1L2 ERAD E3 ligase adaptor subunit(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SEL1L2 transcript variant 1	NM_001271539.1:c....NM_001271539.1:c.1722T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform 1 precursor	NP_001258468.1:p....NP_001258468.1:p.His574Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant 1	NM_001271539.1:c....NM_001271539.1:c.1722T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform 1 precursor	NP_001258468.1:p....NP_001258468.1:p.His574Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant 2	NR_073206.1:n.226...NR_073206.1:n.2267T>G	T>G	Non Coding Transcript Variant
SEL1L2 transcript variant 2	NR_073206.1:n.226...NR_073206.1:n.2267T>A	T>A	Non Coding Transcript Variant
SEL1L2 transcript variant 3	NR_073207.1:n.214...NR_073207.1:n.2148T>G	T>G	Non Coding Transcript Variant
SEL1L2 transcript variant 3	NR_073207.1:n.214...NR_073207.1:n.2148T>A	T>A	Non Coding Transcript Variant
SEL1L2 transcript variant X8	XM_006723650.2:c.	N/A	Genic Downstream Transcript Variant
SEL1L2 transcript variant X9	XM_006723651.2:c.	N/A	Genic Downstream Transcript Variant
SEL1L2 transcript variant X23	XM_006723655.2:c.	N/A	Genic Downstream Transcript Variant
SEL1L2 transcript variant X25	XM_006723656.2:c.	N/A	Genic Downstream Transcript Variant
SEL1L2 transcript variant X1	XM_006723646.2:c....XM_006723646.2:c.2064T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X1	XP_006723709.1:p....XP_006723709.1:p.His688Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X1	XM_006723646.2:c....XM_006723646.2:c.2064T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X1	XP_006723709.1:p....XP_006723709.1:p.His688Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X2	XM_006723647.2:c....XM_006723647.2:c.2061T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X2	XP_006723710.1:p....XP_006723710.1:p.His687Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X2	XM_006723647.2:c....XM_006723647.2:c.2061T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X2	XP_006723710.1:p....XP_006723710.1:p.His687Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X3	XM_006723648.2:c....XM_006723648.2:c.2007T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X3	XP_006723711.1:p....XP_006723711.1:p.His669Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X3	XM_006723648.2:c....XM_006723648.2:c.2007T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X3	XP_006723711.1:p....XP_006723711.1:p.His669Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X4	XM_011529374.1:c....XM_011529374.1:c.2004T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X4	XP_011527676.1:p....XP_011527676.1:p.His668Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X4	XM_011529374.1:c....XM_011529374.1:c.2004T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X4	XP_011527676.1:p....XP_011527676.1:p.His668Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X5	XM_011529375.1:c....XM_011529375.1:c.1953T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X5	XP_011527677.1:p....XP_011527677.1:p.His651Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X5	XM_011529375.1:c....XM_011529375.1:c.1953T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X5	XP_011527677.1:p....XP_011527677.1:p.His651Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X6	XM_011529376.1:c....XM_011529376.1:c.1896T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X6	XP_011527678.1:p....XP_011527678.1:p.His632Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X6	XM_011529376.1:c....XM_011529376.1:c.1896T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X6	XP_011527678.1:p....XP_011527678.1:p.His632Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X7	XM_011529377.1:c....XM_011529377.1:c.1809T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X7	XP_011527679.1:p....XP_011527679.1:p.His603Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X7	XM_011529377.1:c....XM_011529377.1:c.1809T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X7	XP_011527679.1:p....XP_011527679.1:p.His603Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X10	XM_011529378.1:c....XM_011529378.1:c.1728T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X9	XP_011527680.1:p....XP_011527680.1:p.His576Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X10	XM_011529378.1:c....XM_011529378.1:c.1728T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X9	XP_011527680.1:p....XP_011527680.1:p.His576Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X11	XM_006723652.2:c....XM_006723652.2:c.1725T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X10	XP_006723715.1:p....XP_006723715.1:p.His575Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X11	XM_006723652.2:c....XM_006723652.2:c.1725T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X10	XP_006723715.1:p....XP_006723715.1:p.His575Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X13	XM_011529379.1:c....XM_011529379.1:c.1647T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X11	XP_011527681.1:p....XP_011527681.1:p.His549Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X13	XM_011529379.1:c....XM_011529379.1:c.1647T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X11	XP_011527681.1:p....XP_011527681.1:p.His549Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X19	XM_006723654.3:c....XM_006723654.3:c.1056T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X13	XP_006723717.1:p....XP_006723717.1:p.His352Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X19	XM_006723654.3:c....XM_006723654.3:c.1056T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X13	XP_006723717.1:p....XP_006723717.1:p.His352Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X20	XM_017028084.1:c....XM_017028084.1:c.1011T>G	H [CAT]> Q [CAG]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X14	XP_016883573.1:p....XP_016883573.1:p.His337Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X20	XM_017028084.1:c....XM_017028084.1:c.1011T>A	H [CAT]> Q [CAA]	Coding Sequence Variant
protein sel-1 homolog 2 isoform X14	XP_016883573.1:p....XP_016883573.1:p.His337Gln	H [His]> Q [Gln]	Missense Variant
SEL1L2 transcript variant X15	XR_430270.2:n.198...XR_430270.2:n.1982T>G	T>G	Non Coding Transcript Variant
SEL1L2 transcript variant X15	XR_430270.2:n.198...XR_430270.2:n.1982T>A	T>A	Non Coding Transcript Variant
SEL1L2 transcript variant X17	XR_430271.2:n.166...XR_430271.2:n.1660T>G	T>G	Non Coding Transcript Variant
SEL1L2 transcript variant X17	XR_430271.2:n.166...XR_430271.2:n.1660T>A	T>A	Non Coding Transcript Variant
SEL1L2 transcript variant X13	XR_937159.1:n.	N/A	Genic Downstream Transcript Variant
SEL1L2 transcript variant X15	XR_937160.1:n.	N/A	Genic Downstream Transcript Variant
SEL1L2 transcript variant X17	XR_937162.1:n.	N/A	Genic Downstream Transcript Variant
SEL1L2 transcript variant X20	XR_937163.1:n.	N/A	Genic Downstream Transcript Variant
SEL1L2 transcript variant X24	XR_937165.1:n.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.988	C=0.012
1000Genomes	American	Sub	694	A=0.760	C=0.240
1000Genomes	East Asian	Sub	1008	A=0.910	C=0.090
1000Genomes	Europe	Sub	1006	A=0.741	C=0.259
1000Genomes	Global	Study-wide	5008	A=0.858	C=0.142
1000Genomes	South Asian	Sub	978	A=0.810	C=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.750	C=0.250
The Exome Aggregation Consortium	American	Sub	21368	A=0.879	C=0.120
The Exome Aggregation Consortium	Asian	Sub	24998	A=0.846	C=0.153
The Exome Aggregation Consortium	Europe	Sub	73190	A=0.721	C=0.278
The Exome Aggregation Consortium	Global	Study-wide	120454	A=0.775	C=0.224
The Exome Aggregation Consortium	Other	Sub	898	A=0.730	C=0.270
The Genome Aggregation Database	African	Sub	8716	A=0.952	C=0.048
The Genome Aggregation Database	American	Sub	838	A=0.800	C=0.200
The Genome Aggregation Database	East Asian	Sub	1618	A=0.915	C=0.085
The Genome Aggregation Database	Europe	Sub	18462	A=0.701	C=0.298
The Genome Aggregation Database	Global	Study-wide	29936	A=0.789	C=0.210
The Genome Aggregation Database	Other	Sub	302	A=0.820	C=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.851	C=0.148
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.745	C=0.255

PMID	Title	Author	Journal
24277619	ALDH2 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 EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs2073290	0.000848	alcohol consumption (maxi-drinks)	24277619

eQTL of rs2073290 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 rs2073290 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

rs2073290

Genomic Coordinates

Gene: SEL1L2, SEL1L2 ERAD E3 ligase adaptor subunit(minus strand)

Population Frequency

P-Value

eQTL of rs2073290 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs2073290 in Fetal Brain

Genomic View

Chromatin Interaction