rs758342

Homo sapiens
T>C
MX1 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0114 (3438/29966,GnomAD)
C=0147 (4303/29118,TOPMED)
C=0147 (735/5008,1000G)
C=0028 (109/3854,ALSPAC)
C=0031 (114/3708,TWINSUK)
chr21:41418414 (GRCh38.p7) (21q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
24 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.41418414T>C
GRCh37.p13 chr 21NC_000021.8:g.42790341T>C
MX1 RefSeqGeneNG_027788.1:g.2822T>C

Gene: MX1, MX dynamin like GTPase 1(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
MX1 transcript variant 1NM_001144925.2:c.N/AN/A
MX1 transcript variant 3NM_001178046.2:c.N/AN/A
MX1 transcript variant 4NM_001282920.1:c.N/AN/A
MX1 transcript variant 2NM_002462.4:c.N/AN/A
MX1 transcript variant X2XM_011529568.2:c.N/AUpstream Transcript Variant
MX1 transcript variant X1XM_005260978.4:c.N/AN/A
MX1 transcript variant X3XM_005260979.2:c.N/AN/A
MX1 transcript variant X4XM_005260980.2:c.N/AN/A
MX1 transcript variant X7XM_005260981.2:c.N/AN/A
MX1 transcript variant X8XM_005260982.2:c.N/AN/A
MX1 transcript variant X11XM_011529570.2:c.N/AN/A
MX1 transcript variant X5XM_017028349.1:c.N/AN/A
MX1 transcript variant X6XM_017028350.1:c.N/AN/A
MX1 transcript variant X9XM_017028351.1:c.N/AN/A
MX1 transcript variant X10XM_017028352.1:c.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.671C=0.329
1000GenomesAmericanSub694T=0.850C=0.150
1000GenomesEast AsianSub1008T=0.876C=0.124
1000GenomesEuropeSub1006T=0.963C=0.037
1000GenomesGlobalStudy-wide5008T=0.853C=0.147
1000GenomesSouth AsianSub978T=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.972C=0.028
The Genome Aggregation DatabaseAfricanSub8706T=0.706C=0.294
The Genome Aggregation DatabaseAmericanSub838T=0.850C=0.150
The Genome Aggregation DatabaseEast AsianSub1618T=0.864C=0.136
The Genome Aggregation DatabaseEuropeSub18502T=0.972C=0.027
The Genome Aggregation DatabaseGlobalStudy-wide29966T=0.885C=0.114
The Genome Aggregation DatabaseOtherSub302T=0.930C=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.852C=0.147
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.969C=0.031
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
rs7583420.000274alcohol dependence24277619

eQTL of rs758342 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 rs758342 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 )
chr214283226942832408E06741928
chr214275898242759361E068-30980
chr214275945742759637E068-30704
chr214275963942759746E068-30595
chr214275898242759361E069-30980
chr214279103842791157E069697
chr214283792142838850E06947580
chr214275898242759361E071-30980
chr214275945742759637E071-30704
chr214275963942759746E071-30595
chr214283792142838850E07147580
chr214275898242759361E072-30980
chr214279117842791228E072837
chr214279125042791396E072909
chr214279149942791549E0721158
chr214283752742837687E07247186
chr214283792142838850E07247580
chr214283226942832408E07341928
chr214275898242759361E074-30980
chr214275945742759637E074-30704
chr214279103842791157E074697
chr214279946942799560E0749128
chr214283752742837687E07447186
chr214283792142838850E07447580







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr214279181042792828E0671469
chr214279760142798955E0677260
chr214274098842741739E068-48602
chr214274179142742481E068-47860
chr214279181042792828E0681469
chr214279760142798955E0687260
chr214274098842741739E069-48602
chr214279181042792828E0691469
chr214279760142798955E0697260
chr214274098842741739E070-48602
chr214279181042792828E0701469
chr214274098842741739E071-48602
chr214274179142742481E071-47860
chr214279181042792828E0711469
chr214279760142798955E0717260
chr214279181042792828E0721469
chr214279760142798955E0727260
chr214274098842741739E073-48602
chr214279181042792828E0731469
chr214279760142798955E0737260
chr214279181042792828E0741469
chr214279760142798955E0747260
chr214279181042792828E0811469
chr214274098842741739E082-48602
chr214279181042792828E0821469
chr214279760142798955E0827260