rs12219105

Homo sapiens
T>C
KCNMA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0148 (4455/29940,GnomAD)
C=0147 (4300/29118,TOPMED)
C=0139 (697/5008,1000G)
C=0139 (534/3854,ALSPAC)
C=0143 (530/3708,TWINSUK)
chr10:77413782 (GRCh38.p7) (10q22.3)
AD
GWASdb2
2   publication(s)
See rs on genome
277 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.77413782T>C
GRCh37.p13 chr 10NC_000010.10:g.79173540T>C
KCNMA1 RefSeqGeneNG_012270.1:g.229038A>G

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
1000GenomesAfricanSub1322T=0.818C=0.182
1000GenomesAmericanSub694T=0.910C=0.090
1000GenomesEast AsianSub1008T=0.887C=0.113
1000GenomesEuropeSub1006T=0.869C=0.131
1000GenomesGlobalStudy-wide5008T=0.861C=0.139
1000GenomesSouth AsianSub978T=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.861C=0.139
The Genome Aggregation DatabaseAfricanSub8718T=0.825C=0.175
The Genome Aggregation DatabaseAmericanSub838T=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1616T=0.908C=0.092
The Genome Aggregation DatabaseEuropeSub18466T=0.856C=0.143
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.851C=0.148
The Genome Aggregation DatabaseOtherSub302T=0.800C=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.852C=0.147
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.857C=0.143
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
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
rs122191050.0000968alcoholismpha002893
rs122191050.000097alcohol dependence20201924
rs122191050.00015alcohol dependence(early age of onset)20201924

eQTL of rs12219105 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 rs12219105 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 )
chr107914365179143839E067-29701
chr107914384179143937E067-29603
chr107914407879144161E067-29379
chr107914860079148725E067-24815
chr107914890779148970E067-24570
chr107915091779150971E067-22569
chr107915103979151457E067-22083
chr107915146679153124E067-20416
chr107915970379159753E067-13787
chr107915993379160039E067-13501
chr107916592979165991E067-7549
chr107916606179166121E067-7419
chr107916649179166557E067-6983
chr107916662279166794E067-6746
chr107916691479167053E067-6487
chr107916708779167243E067-6297
chr107917130079171369E067-2171
chr107917151779171722E067-1818
chr107917173579171789E067-1751
chr107917180479171879E067-1661
chr107918187579181938E0678335
chr107919396779194061E06720427
chr107919410779194157E06720567
chr107920809479208273E06734554
chr107922254279222710E06749002
chr107922299679223069E06749456
chr107922310179223154E06749561
chr107922329279223356E06749752
chr107913418779134464E068-39076
chr107913455679134710E068-38830
chr107914424179144300E068-29240
chr107914860079148725E068-24815
chr107914890779148970E068-24570
chr107915091779150971E068-22569
chr107915103979151457E068-22083
chr107915146679153124E068-20416
chr107915970379159753E068-13787
chr107915993379160039E068-13501
chr107916027379160323E068-13217
chr107916537479165927E068-7613
chr107916592979165991E068-7549
chr107916606179166121E068-7419
chr107916649179166557E068-6983
chr107916662279166794E068-6746
chr107916691479167053E068-6487
chr107916708779167243E068-6297
chr107917055079170631E068-2909
chr107917065579170720E068-2820
chr107917095979171056E068-2484
chr107917130079171369E068-2171
chr107917151779171722E068-1818
chr107917173579171789E068-1751
chr107917180479171879E068-1661
chr107917697479177116E0683434
chr107917723779177619E0683697
chr107917770779177852E0684167
chr107917790279178305E0684362
chr107920458179204675E06831041
chr107920734979207410E06833809
chr107920809479208273E06834554
chr107921518479215278E06841644
chr107921537579215565E06841835
chr107921568779215773E06842147
chr107921583979215889E06842299
chr107921717779217702E06843637
chr107921775079217863E06844210
chr107921790479218017E06844364
chr107921809279218142E06844552
chr107922219179222458E06848651
chr107922246879222518E06848928
chr107922254279222710E06849002
chr107922299679223069E06849456
chr107922310179223154E06849561
chr107922329279223356E06849752
chr107913455679134710E069-38830
chr107913505679135137E069-38403
chr107913520879135300E069-38240
chr107913536579135425E069-38115
chr107914365179143839E069-29701
chr107914384179143937E069-29603
chr107914407879144161E069-29379
chr107914424179144300E069-29240
chr107914945379149501E069-24039
chr107914958779149631E069-23909
chr107914970679149918E069-23622
chr107914996179150147E069-23393
chr107915019979150691E069-22849
chr107915091779150971E069-22569
chr107915103979151457E069-22083
chr107916592979165991E069-7549
chr107916606179166121E069-7419
chr107916649179166557E069-6983
chr107916662279166794E069-6746
chr107916691479167053E069-6487
chr107916708779167243E069-6297
chr107916762379167708E069-5832
chr107916773779167787E069-5753
chr107917151779171722E069-1818
chr107917173579171789E069-1751
chr107917180479171879E069-1661
chr107920734979207410E06933809
chr107920809479208273E06934554
chr107921518479215278E06941644
chr107921537579215565E06941835
chr107921568779215773E06942147
chr107921583979215889E06942299
chr107921591779216071E06942377
chr107921611879216226E06942578
chr107921624179216503E06942701
chr107921659579216783E06943055
chr107921684679216911E06943306
chr107921691679217052E06943376
chr107921717779217702E06943637
chr107922299679223069E06949456
chr107922310179223154E06949561
chr107922329279223356E06949752
chr107915993379160039E070-13501
chr107920141379201778E07027873
chr107914843279148558E071-24982
chr107914860079148725E071-24815
chr107914890779148970E071-24570
chr107915019979150691E071-22849
chr107915091779150971E071-22569
chr107915103979151457E071-22083
chr107915146679153124E071-20416
chr107915993379160039E071-13501
chr107916514279165235E071-8305
chr107916537479165927E071-7613
chr107916592979165991E071-7549
chr107916606179166121E071-7419
chr107918702779187306E07113487
chr107918737579187465E07113835
chr107920734979207410E07133809
chr107920809479208273E07134554
chr107921583979215889E07142299
chr107921591779216071E07142377
chr107921611879216226E07142578
chr107921624179216503E07142701
chr107922299679223069E07149456
chr107922310179223154E07149561
chr107922329279223356E07149752
chr107914407879144161E072-29379
chr107914559879145648E072-27892
chr107914578579145835E072-27705
chr107914598279146032E072-27508
chr107914610279146177E072-27363
chr107915019979150691E072-22849
chr107915091779150971E072-22569
chr107915103979151457E072-22083
chr107915146679153124E072-20416
chr107915324779153899E072-19641
chr107915390479154174E072-19366
chr107915993379160039E072-13501
chr107916537479165927E072-7613
chr107916592979165991E072-7549
chr107916606179166121E072-7419
chr107916649179166557E072-6983
chr107916662279166794E072-6746
chr107916691479167053E072-6487
chr107916708779167243E072-6297
chr107917130079171369E072-2171
chr107917151779171722E072-1818
chr107917173579171789E072-1751
chr107920734979207410E07233809
chr107920809479208273E07234554
chr107921809279218142E07244552
chr107921874179219778E07245201
chr107922254279222710E07249002
chr107922299679223069E07249456
chr107922310179223154E07249561
chr107922329279223356E07249752
chr107913455679134710E073-38830
chr107914365179143839E073-29701
chr107914384179143937E073-29603
chr107914407879144161E073-29379
chr107914860079148725E073-24815
chr107914890779148970E073-24570
chr107914945379149501E073-24039
chr107914958779149631E073-23909
chr107914970679149918E073-23622
chr107914996179150147E073-23393
chr107915019979150691E073-22849
chr107915091779150971E073-22569
chr107915103979151457E073-22083
chr107915146679153124E073-20416
chr107915970379159753E073-13787
chr107915993379160039E073-13501
chr107916027379160323E073-13217
chr107916537479165927E073-7613
chr107916592979165991E073-7549
chr107916606179166121E073-7419
chr107916649179166557E073-6983
chr107916662279166794E073-6746
chr107916691479167053E073-6487
chr107916708779167243E073-6297
chr107916762379167708E073-5832
chr107916773779167787E073-5753
chr107916802279168154E073-5386
chr107916820279168270E073-5270
chr107916836479168414E073-5126
chr107916952879170525E073-3015
chr107917055079170631E073-2909
chr107917065579170720E073-2820
chr107917095979171056E073-2484
chr107917130079171369E073-2171
chr107917151779171722E073-1818
chr107917173579171789E073-1751
chr107917180479171879E073-1661
chr107917203479172205E073-1335
chr107917697479177116E0733434
chr107917723779177619E0733697
chr107917770779177852E0734167
chr107917790279178305E0734362
chr107917835379178403E0734813
chr107919031379190486E07316773
chr107919057179190615E07317031
chr107919080479190912E07317264
chr107920141379201778E07327873
chr107921537579215565E07341835
chr107921568779215773E07342147
chr107921583979215889E07342299
chr107921591779216071E07342377
chr107921611879216226E07342578
chr107921624179216503E07342701
chr107921659579216783E07343055
chr107921684679216911E07343306
chr107921691679217052E07343376
chr107921717779217702E07343637
chr107921775079217863E07344210
chr107921790479218017E07344364
chr107921809279218142E07344552
chr107922254279222710E07349002
chr107922299679223069E07349456
chr107922310179223154E07349561
chr107922329279223356E07349752
chr107915019979150691E074-22849
chr107915091779150971E074-22569
chr107915103979151457E074-22083
chr107915993379160039E074-13501
chr107916592979165991E074-7549
chr107916691479167053E074-6487
chr107917723779177619E0743697
chr107920734979207410E07433809
chr107920809479208273E07434554
chr107914365179143839E081-29701
chr107914384179143937E081-29603
chr107914407879144161E081-29379
chr107914424179144300E081-29240
chr107915623079156284E081-17256
chr107915653179156670E081-16870
chr107915668779156768E081-16772
chr107915678679156922E081-16618
chr107918076279181158E0817222
chr107918116479181271E0817624
chr107918136379181840E0817823
chr107918187579181938E0818335
chr107918202179182169E0818481
chr107918246879183140E0818928
chr107918326979183486E0819729
chr107918374779183846E08110207
chr107918390279184113E08110362
chr107919338479193647E08119844
chr107919374979193871E08120209
chr107919396779194061E08120427
chr107919576679195835E08122226
chr107919598979196039E08122449
chr107919604579196122E08122505
chr107919614079196293E08122600
chr107919634679196434E08122806
chr107919649879196603E08122958
chr107919662279196964E08123082
chr107919715379197203E08123613
chr107914407879144161E082-29379
chr107914424179144300E082-29240
chr107918326979183486E0829729
chr107918374779183846E08210207
chr107918390279184113E08210362