rs2077641

Homo sapiens
G>A / G>C / G>T
KCNMA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0355 (10646/29956,GnomAD)
C=0404 (11787/29118,TOPMED)
C=0470 (2354/5008,1000G)
C=0227 (876/3854,ALSPAC)
C=0232 (859/3708,TWINSUK)
chr10:77386358 (GRCh38.p7) (10q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
77 Enhancers around
33 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.77386358G>A
GRCh38.p7 chr 10NC_000010.11:g.77386358G>C
GRCh38.p7 chr 10NC_000010.11:g.77386358G>T
GRCh37.p13 chr 10NC_000010.10:g.79146116G>A
GRCh37.p13 chr 10NC_000010.10:g.79146116G>C
GRCh37.p13 chr 10NC_000010.10:g.79146116G>T
KCNMA1 RefSeqGeneNG_012270.1:g.256462C>T
KCNMA1 RefSeqGeneNG_012270.1:g.256462C>G
KCNMA1 RefSeqGeneNG_012270.1:g.256462C>A

Gene: KCNMA1, potassium calcium-activated channel subfamily M alpha 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNMA1 transcript variant 1NM_001014797.2:c.N/AIntron Variant
KCNMA1 transcript variant 3NM_001161352.1:c.N/AIntron Variant
KCNMA1 transcript variant 4NM_001161353.1:c.N/AIntron Variant
KCNMA1 transcript variant 5NM_001271518.1:c.N/AIntron Variant
KCNMA1 transcript variant 6NM_001271519.1:c.N/AIntron Variant
KCNMA1 transcript variant 10NM_001322829.1:c.N/AIntron Variant
KCNMA1 transcript variant 11NM_001322830.1:c.N/AIntron Variant
KCNMA1 transcript variant 12NM_001322832.1:c.N/AIntron Variant
KCNMA1 transcript variant 13NM_001322835.1:c.N/AIntron Variant
KCNMA1 transcript variant 14NM_001322836.1:c.N/AIntron Variant
KCNMA1 transcript variant 15NM_001322837.1:c.N/AIntron Variant
KCNMA1 transcript variant 2NM_002247.3:c.N/AIntron Variant
KCNMA1 transcript variant 16NM_001322838.1:c.N/AGenic Upstream Transcript Variant
KCNMA1 transcript variant 7NM_001271520.1:c.N/AGenic Downstream Transcript Variant
KCNMA1 transcript variant 8NM_001271521.1:c.N/AGenic Downstream Transcript Variant
KCNMA1 transcript variant 9NM_001271522.1:c.N/AGenic Downstream Transcript Variant
KCNMA1 transcript variant 17NM_001322839.1:c.N/AGenic Downstream Transcript Variant
KCNMA1 transcript variant X34XM_005269776.3:c.N/AIntron Variant
KCNMA1 transcript variant X17XM_005269778.1:c.N/AIntron Variant
KCNMA1 transcript variant X18XM_005269781.2:c.N/AIntron Variant
KCNMA1 transcript variant X35XM_005269787.3:c.N/AIntron Variant
KCNMA1 transcript variant X24XM_005269789.2:c.N/AIntron Variant
KCNMA1 transcript variant X25XM_005269792.2:c.N/AIntron Variant
KCNMA1 transcript variant X28XM_005269796.2:c.N/AIntron Variant
KCNMA1 transcript variant X26XM_006717826.2:c.N/AIntron Variant
KCNMA1 transcript variant X4XM_011539773.1:c.N/AIntron Variant
KCNMA1 transcript variant X6XM_011539774.1:c.N/AIntron Variant
KCNMA1 transcript variant X7XM_011539775.1:c.N/AIntron Variant
KCNMA1 transcript variant X8XM_011539776.1:c.N/AIntron Variant
KCNMA1 transcript variant X9XM_011539777.1:c.N/AIntron Variant
KCNMA1 transcript variant X9XM_011539778.2:c.N/AIntron Variant
KCNMA1 transcript variant X13XM_011539779.1:c.N/AIntron Variant
KCNMA1 transcript variant X16XM_011539780.1:c.N/AIntron Variant
KCNMA1 transcript variant X20XM_011539781.2:c.N/AIntron Variant
KCNMA1 transcript variant X21XM_011539782.2:c.N/AIntron Variant
KCNMA1 transcript variant X24XM_011539783.1:c.N/AIntron Variant
KCNMA1 transcript variant X31XM_011539784.1:c.N/AIntron Variant
KCNMA1 transcript variant X36XM_011539785.1:c.N/AIntron Variant
KCNMA1 transcript variant X1XM_017016207.1:c.N/AIntron Variant
KCNMA1 transcript variant X2XM_017016208.1:c.N/AIntron Variant
KCNMA1 transcript variant X3XM_017016209.1:c.N/AIntron Variant
KCNMA1 transcript variant X5XM_017016210.1:c.N/AIntron Variant
KCNMA1 transcript variant X11XM_017016211.1:c.N/AIntron Variant
KCNMA1 transcript variant X12XM_017016212.1:c.N/AIntron Variant
KCNMA1 transcript variant X14XM_017016213.1:c.N/AIntron Variant
KCNMA1 transcript variant X15XM_017016214.1:c.N/AIntron Variant
KCNMA1 transcript variant X18XM_017016215.1:c.N/AIntron Variant
KCNMA1 transcript variant X21XM_017016216.1:c.N/AIntron Variant
KCNMA1 transcript variant X22XM_017016217.1:c.N/AIntron Variant
KCNMA1 transcript variant X30XM_017016219.1:c.N/AIntron Variant
KCNMA1 transcript variant X32XM_017016220.1:c.N/AIntron Variant
KCNMA1 transcript variant X37XM_017016222.1:c.N/AIntron Variant
KCNMA1 transcript variant X29XM_017016218.1:c.N/AGenic Upstream Transcript Variant
KCNMA1 transcript variant X43XM_017016223.1:c.N/AGenic Upstream Transcript Variant
KCNMA1 transcript variant X33XM_017016221.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.314C=0.686
1000GenomesAmericanSub694G=0.610C=0.390
1000GenomesEast AsianSub1008G=0.525C=0.475
1000GenomesEuropeSub1006G=0.762C=0.238
1000GenomesGlobalStudy-wide5008G=0.530C=0.470
1000GenomesSouth AsianSub978G=0.530C=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.773C=0.227
The Genome Aggregation DatabaseAfricanSub8722G=0.387A=0.002
The Genome Aggregation DatabaseAmericanSub832G=0.660A=0.00,
The Genome Aggregation DatabaseEast AsianSub1620G=0.581A=0.000
The Genome Aggregation DatabaseEuropeSub18480G=0.770A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.643A=0.000
The Genome Aggregation DatabaseOtherSub302G=0.610A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.595C=0.404
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.768C=0.232
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs20776410.000792alcohol dependence21314694

eQTL of rs2077641 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 rs2077641 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 )
chr10103761095103761863E067-48266
chr10103811394103811527E0671265
chr10103811555103811605E0671426
chr10103812314103812388E0672185
chr10103816404103816537E0676275
chr10103826439103826905E06716310
chr10103827124103827185E06716995
chr10103827334103827438E06717205
chr10103827499103827633E06717370
chr10103761095103761863E068-48266
chr10103761930103761980E068-48149
chr10103812628103812683E0682499
chr10103812819103812913E0682690
chr10103813212103813262E0683083
chr10103813284103813359E0683155
chr10103813635103814034E0683506
chr10103826439103826905E06816310
chr10103813635103814034E0693506
chr10103814421103814528E0694292
chr10103816404103816537E0696275
chr10103826439103826905E06916310
chr10103827124103827185E06916995
chr10103827334103827438E06917205
chr10103800345103800431E070-9698
chr10103812314103812388E0702185
chr10103812628103812683E0702499
chr10103812819103812913E0702690
chr10103813212103813262E0703083
chr10103813284103813359E0703155
chr10103813635103814034E0703506
chr10103814234103814292E0704105
chr10103814352103814418E0704223
chr10103814421103814528E0704292
chr10103826439103826905E07016310
chr10103827124103827185E07016995
chr10103827334103827438E07017205
chr10103827499103827633E07017370
chr10103827688103827738E07017559
chr10103827941103827981E07017812
chr10103828131103828224E07018002
chr10103828370103828420E07018241
chr10103803306103803724E071-6405
chr10103803751103803816E071-6313
chr10103812628103812683E0712499
chr10103812819103812913E0712690
chr10103813212103813262E0713083
chr10103813284103813359E0713155
chr10103813635103814034E0713506
chr10103814234103814292E0714105
chr10103814352103814418E0714223
chr10103814421103814528E0714292
chr10103826439103826905E07116310
chr10103827124103827185E07116995
chr10103827334103827438E07117205
chr10103761930103761980E072-48149
chr10103826439103826905E07216310
chr10103827124103827185E07216995
chr10103827334103827438E07217205
chr10103827499103827633E07217370
chr10103826439103826905E07316310
chr10103827124103827185E07316995
chr10103827334103827438E07317205
chr10103827499103827633E07317370
chr10103826439103826905E07416310
chr10103764144103764544E081-45585
chr10103813635103814034E0813506
chr10103814234103814292E0814105
chr10103814352103814418E0814223
chr10103814421103814528E0814292
chr10103826439103826905E08116310
chr10103814421103814528E0824292
chr10103826439103826905E08216310
chr10103827124103827185E08216995
chr10103827334103827438E08217205
chr10103827499103827633E08217370
chr10103827688103827738E08217559
chr10103829263103829313E08219134










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10103814977103815055E0674848
chr10103815093103816403E0674964
chr10103824185103826245E06714056
chr10103814778103814842E0684649
chr10103814977103815055E0684848
chr10103815093103816403E0684964
chr10103824185103826245E06814056
chr10103814778103814842E0694649
chr10103814977103815055E0694848
chr10103815093103816403E0694964
chr10103824185103826245E06914056
chr10103814977103815055E0704848
chr10103815093103816403E0704964
chr10103824185103826245E07014056
chr10103814778103814842E0714649
chr10103814977103815055E0714848
chr10103815093103816403E0714964
chr10103824185103826245E07114056
chr10103814977103815055E0724848
chr10103815093103816403E0724964
chr10103824185103826245E07214056
chr10103814778103814842E0734649
chr10103814977103815055E0734848
chr10103815093103816403E0734964
chr10103824185103826245E07314056
chr10103814977103815055E0744848
chr10103815093103816403E0744964
chr10103824185103826245E07414056
chr10103815093103816403E0814964
chr10103814778103814842E0824649
chr10103814977103815055E0824848
chr10103815093103816403E0824964
chr10103824185103826245E08214056