rs10090288

Homo sapiens
A>C
MICU3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0177 (5297/29916,GnomAD)
C=0226 (6581/29118,TOPMED)
C=0238 (1191/5008,1000G)
C=0071 (275/3854,ALSPAC)
C=0065 (242/3708,TWINSUK)
chr8:17072126 (GRCh38.p7) (8p22)
AD
GWASCatalog | GWASdb2
2   publication(s)
See rs on genome
63 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.17072126A>C
GRCh37.p13 chr 8NC_000008.10:g.16929635A>C

Gene: MICU3, mitochondrial calcium uptake family member 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MICU3 transcript variant 1NM_181723.2:c.N/AIntron Variant
MICU3 transcript variant X4XM_005273477.2:c.N/AIntron Variant
MICU3 transcript variant X6XM_006716328.2:c.N/AIntron Variant
MICU3 transcript variant X7XM_006716329.2:c.N/AIntron Variant
MICU3 transcript variant X9XM_006716330.2:c.N/AIntron Variant
MICU3 transcript variant X27XM_006716333.3:c.N/AIntron Variant
MICU3 transcript variant X4XM_011544507.2:c.N/AIntron Variant
MICU3 transcript variant X21XM_011544508.2:c.N/AIntron Variant
MICU3 transcript variant X5XM_017013336.1:c.N/AIntron Variant
MICU3 transcript variant X10XM_017013337.1:c.N/AIntron Variant
MICU3 transcript variant X12XM_017013338.1:c.N/AIntron Variant
MICU3 transcript variant X14XM_017013339.1:c.N/AIntron Variant
MICU3 transcript variant X15XM_017013340.1:c.N/AIntron Variant
MICU3 transcript variant X17XM_017013341.1:c.N/AIntron Variant
MICU3 transcript variant X18XM_017013342.1:c.N/AIntron Variant
MICU3 transcript variant X28XM_017013343.1:c.N/AIntron Variant
MICU3 transcript variant X1XR_001745513.1:n.N/AIntron Variant
MICU3 transcript variant X2XR_001745514.1:n.N/AIntron Variant
MICU3 transcript variant X3XR_001745515.1:n.N/AIntron Variant
MICU3 transcript variant X8XR_001745516.1:n.N/AIntron Variant
MICU3 transcript variant X11XR_001745517.1:n.N/AIntron Variant
MICU3 transcript variant X16XR_001745518.1:n.N/AIntron Variant
MICU3 transcript variant X19XR_001745519.1:n.N/AIntron Variant
MICU3 transcript variant X20XR_001745520.1:n.N/AIntron Variant
MICU3 transcript variant X23XR_001745521.1:n.N/AIntron Variant
MICU3 transcript variant X25XR_001745522.1:n.N/AIntron Variant
MICU3 transcript variant X29XR_001745523.1:n.N/AIntron Variant
MICU3 transcript variant X27XR_428309.2:n.N/AIntron Variant
MICU3 transcript variant X13XR_949390.2:n.N/AIntron Variant
MICU3 transcript variant X22XR_949392.2:n.N/AIntron Variant
MICU3 transcript variant X25XR_949393.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.536C=0.464
1000GenomesAmericanSub694A=0.850C=0.150
1000GenomesEast AsianSub1008A=0.747C=0.253
1000GenomesEuropeSub1006A=0.902C=0.098
1000GenomesGlobalStudy-wide5008A=0.762C=0.238
1000GenomesSouth AsianSub978A=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.929C=0.071
The Genome Aggregation DatabaseAfricanSub8698A=0.604C=0.396
The Genome Aggregation DatabaseAmericanSub836A=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1614A=0.733C=0.267
The Genome Aggregation DatabaseEuropeSub18466A=0.930C=0.069
The Genome Aggregation DatabaseGlobalStudy-wide29916A=0.822C=0.177
The Genome Aggregation DatabaseOtherSub302A=0.810C=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.774C=0.226
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.935C=0.065
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
22064162Genome-wide association study of comorbid depressive syndrome and alcohol dependence.Edwards ACPsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs100902888.00E-06alcohol dependence22064162
rs100902880.00034alcohol dependence20201924

eQTL of rs10090288 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 rs10090288 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 )
chr81690883316909548E067-20087
chr81691468716914849E067-14786
chr81693265616932752E0673021
chr81695736716957443E06727732
chr81695759316957757E06727958
chr81697033216970412E06740697
chr81697042516970558E06740790
chr81697059516970751E06740960
chr81697080916970984E06741174
chr81697099516971137E06741360
chr81691075416910828E068-18807
chr81691083016910948E068-18687
chr81691139516911708E068-17927
chr81695736716957443E06827732
chr81695759316957757E06827958
chr81697033216970412E06840697
chr81697042516970558E06840790
chr81697059516970751E06840960
chr81697080916970984E06841174
chr81697099516971137E06841360
chr81690883316909548E069-20087
chr81695736716957443E06927732
chr81695759316957757E06927958
chr81697033216970412E06940697
chr81697042516970558E06940790
chr81697059516970751E06940960
chr81697080916970984E06941174
chr81697099516971137E06941360
chr81695736716957443E07027732
chr81695759316957757E07027958
chr81690883316909548E071-20087
chr81695736716957443E07127732
chr81695759316957757E07127958
chr81697033216970412E07140697
chr81697042516970558E07140790
chr81697059516970751E07140960
chr81697080916970984E07141174
chr81697099516971137E07141360
chr81688335716883407E072-46228
chr81688356616883721E072-45914
chr81690883316909548E072-20087
chr81693265616932752E0723021
chr81693276816933027E0723133
chr81697033216970412E07240697
chr81697042516970558E07240790
chr81697059516970751E07240960
chr81697080916970984E07241174
chr81697099516971137E07241360
chr81688356616883721E073-45914
chr81690883316909548E073-20087
chr81688356616883721E074-45914
chr81690883316909548E074-20087
chr81691083016910948E074-18687
chr81693239416932459E0742759
chr81693265616932752E0743021
chr81693276816933027E0743133
chr81695736716957443E07427732
chr81695759316957757E07427958
chr81697033216970412E07440697
chr81697042516970558E07440790
chr81697059516970751E07440960
chr81697080916970984E07441174
chr81697099516971137E07441360








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr81688373516886285E067-43350
chr81688373516886285E068-43350
chr81688373516886285E069-43350
chr81688373516886285E070-43350
chr81688373516886285E071-43350
chr81688373516886285E072-43350
chr81688373516886285E073-43350
chr81688373516886285E074-43350
chr81688373516886285E081-43350
chr81688373516886285E082-43350