rs17624782

Homo sapiens
G>T
MICU3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0064 (1935/29912,GnomAD)
T=0052 (1523/29118,TOPMED)
T=0112 (560/5008,1000G)
T=0068 (263/3854,ALSPAC)
T=0061 (225/3708,TWINSUK)
chr8:17058471 (GRCh38.p7) (8p22)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.17058471G>T
GRCh37.p13 chr 8NC_000008.10:g.16915980G>T

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
1000GenomesAfricanSub1322G=0.989T=0.011
1000GenomesAmericanSub694G=0.890T=0.110
1000GenomesEast AsianSub1008G=0.750T=0.250
1000GenomesEuropeSub1006G=0.903T=0.097
1000GenomesGlobalStudy-wide5008G=0.888T=0.112
1000GenomesSouth AsianSub978G=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.932T=0.068
The Genome Aggregation DatabaseAfricanSub8722G=0.983T=0.017
The Genome Aggregation DatabaseAmericanSub836G=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1614G=0.735T=0.265
The Genome Aggregation DatabaseEuropeSub18438G=0.932T=0.067
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.935T=0.064
The Genome Aggregation DatabaseOtherSub302G=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.947T=0.052
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.939T=0.061
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs176247820.00099alcohol dependence20201924

eQTL of rs17624782 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 rs17624782 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 )
chr81690883316909548E067-6432
chr81691468716914849E067-1131
chr81693265616932752E06716676
chr81695736716957443E06741387
chr81695759316957757E06741613
chr81691075416910828E068-5152
chr81691083016910948E068-5032
chr81691139516911708E068-4272
chr81695736716957443E06841387
chr81695759316957757E06841613
chr81690883316909548E069-6432
chr81695736716957443E06941387
chr81695759316957757E06941613
chr81695736716957443E07041387
chr81695759316957757E07041613
chr81690883316909548E071-6432
chr81695736716957443E07141387
chr81695759316957757E07141613
chr81688335716883407E072-32573
chr81688356616883721E072-32259
chr81690883316909548E072-6432
chr81693265616932752E07216676
chr81693276816933027E07216788
chr81688356616883721E073-32259
chr81690883316909548E073-6432
chr81688356616883721E074-32259
chr81690883316909548E074-6432
chr81691083016910948E074-5032
chr81693239416932459E07416414
chr81693265616932752E07416676
chr81693276816933027E07416788
chr81695736716957443E07441387
chr81695759316957757E07441613








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr81688373516886285E067-29695
chr81687047816871142E068-44838
chr81688373516886285E068-29695
chr81688373516886285E069-29695
chr81688373516886285E070-29695
chr81688373516886285E071-29695
chr81688373516886285E072-29695
chr81688373516886285E073-29695
chr81688373516886285E074-29695
chr81688373516886285E081-29695
chr81688373516886285E082-29695