rs717207

Homo sapiens
G>T
KCNMA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0108 (3253/29986,GnomAD)
T=0144 (4198/29118,TOPMED)
T=0124 (621/5008,1000G)
T=0063 (241/3854,ALSPAC)
T=0065 (240/3708,TWINSUK)
chr10:77283606 (GRCh38.p7) (10q22.3)
AD
GWASdb2
3   publication(s)
See rs on genome
226 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.77283606G>T
GRCh37.p13 chr 10NC_000010.10:g.79043364G>T
KCNMA1 RefSeqGeneNG_012270.1:g.359214C>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 16NM_001322838.1:c.N/AIntron Variant
KCNMA1 transcript variant 2NM_002247.3:c.N/AIntron 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 X29XM_017016218.1:c.N/AIntron Variant
KCNMA1 transcript variant X30XM_017016219.1:c.N/AIntron Variant
KCNMA1 transcript variant X37XM_017016222.1:c.N/AIntron Variant
KCNMA1 transcript variant X43XM_017016223.1:c.N/AGenic Upstream Transcript Variant
KCNMA1 transcript variant X32XM_017016220.1:c.N/AGenic Downstream 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=0.719T=0.281
1000GenomesAmericanSub694G=0.930T=0.070
1000GenomesEast AsianSub1008G=0.999T=0.001
1000GenomesEuropeSub1006G=0.927T=0.073
1000GenomesGlobalStudy-wide5008G=0.876T=0.124
1000GenomesSouth AsianSub978G=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.937T=0.063
The Genome Aggregation DatabaseAfricanSub8724G=0.767T=0.233
The Genome Aggregation DatabaseAmericanSub836G=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1620G=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18504G=0.939T=0.060
The Genome Aggregation DatabaseGlobalStudy-wide29986G=0.891T=0.108
The Genome Aggregation DatabaseOtherSub302G=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.855T=0.144
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.935T=0.065
PMID Title Author Journal
22281715Recent advances in the genetic epidemiology and molecular genetics of substance use disorders.Kendler KSNat Neurosci
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
25043041Neuropsychosocial profiles of current and future adolescent alcohol misusers.Whelan RNature

P-Value

SNP ID p-value Traits Study
rs7172072.17E-05alcohol dependence21314694

eQTL of rs717207 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 rs717207 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 )
chr107900237179003372E067-39992
chr107900337379003631E067-39733
chr107900622479006335E067-37029
chr107900651279006734E067-36630
chr107901340779013489E067-29875
chr107901353179013581E067-29783
chr107902796179028356E067-15008
chr107902843479028508E067-14856
chr107902857879028794E067-14570
chr107902882979028879E067-14485
chr107903350579033692E067-9672
chr107903374579034503E067-8861
chr107904736779047903E0674003
chr107904790879048052E0674544
chr107906791879068012E06724554
chr107906810779068582E06724743
chr107906876579068883E06725401
chr107906972779069815E06726363
chr107906990479069954E06726540
chr107906996279070070E06726598
chr107907011679070676E06726752
chr107907081679070861E06727452
chr107907092479071011E06727560
chr107909180379091870E06748439
chr107909200379092043E06748639
chr107909206679092279E06748702
chr107909231779092460E06748953
chr107909268879093017E06749324
chr107899451478994588E068-48776
chr107899467078994965E068-48399
chr107899505278995196E068-48168
chr107899534678995406E068-47958
chr107899713578997187E068-46177
chr107899728878997338E068-46026
chr107899757578998027E068-45337
chr107900574479006187E068-37177
chr107900622479006335E068-37029
chr107900651279006734E068-36630
chr107900675879007577E068-35787
chr107900763179007709E068-35655
chr107900774779008451E068-34913
chr107902606379026326E068-17038
chr107902682579026875E068-16489
chr107902754579027717E068-15647
chr107902781579027932E068-15432
chr107902796179028356E068-15008
chr107902843479028508E068-14856
chr107902857879028794E068-14570
chr107902882979028879E068-14485
chr107902985779029933E068-13431
chr107903350579033692E068-9672
chr107903374579034503E068-8861
chr107904736779047903E0684003
chr107904790879048052E0684544
chr107905025879051182E0686894
chr107906972779069815E06826363
chr107906990479069954E06826540
chr107906996279070070E06826598
chr107907011679070676E06826752
chr107907081679070861E06827452
chr107907092479071011E06827560
chr107907101279071297E06827648
chr107907827779078331E06834913
chr107907856679078792E06835202
chr107908019179081714E06836827
chr107900952879010236E069-33128
chr107902606379026326E069-17038
chr107904661979047121E0693255
chr107906972779069815E06926363
chr107906990479069954E06926540
chr107906996279070070E06926598
chr107907011679070676E06926752
chr107907081679070861E06927452
chr107907092479071011E06927560
chr107907101279071297E06927648
chr107907156179071699E06928197
chr107907250979072615E06929145
chr107907275479072804E06929390
chr107907298979073080E06929625
chr107909200379092043E06948639
chr107909206679092279E06948702
chr107909231779092460E06948953
chr107909268879093017E06949324
chr107901218079012268E070-31096
chr107901230679012520E070-30844
chr107901268779012849E070-30515
chr107901288879013341E070-30023
chr107901340779013489E070-29875
chr107901353179013581E070-29783
chr107903252079032629E070-10735
chr107903350579033692E070-9672
chr107903374579034503E070-8861
chr107900237179003372E071-39992
chr107900337379003631E071-39733
chr107900368279003756E071-39608
chr107900394679004007E071-39357
chr107900410579004205E071-39159
chr107900424279005099E071-38265
chr107900651279006734E071-36630
chr107900675879007577E071-35787
chr107900763179007709E071-35655
chr107901288879013341E071-30023
chr107902754579027717E071-15647
chr107902843479028508E071-14856
chr107902857879028794E071-14570
chr107902882979028879E071-14485
chr107904721379047336E0713849
chr107904736779047903E0714003
chr107906972779069815E07126363
chr107906990479069954E07126540
chr107906996279070070E07126598
chr107907011679070676E07126752
chr107907081679070861E07127452
chr107907092479071011E07127560
chr107907101279071297E07127648
chr107907156179071699E07128197
chr107907298979073080E07129625
chr107909040579090474E07147041
chr107909180379091870E07148439
chr107909200379092043E07148639
chr107909206679092279E07148702
chr107909231779092460E07148953
chr107900651279006734E072-36630
chr107900675879007577E072-35787
chr107901340779013489E072-29875
chr107901353179013581E072-29783
chr107902606379026326E072-17038
chr107903350579033692E072-9672
chr107904661979047121E0723255
chr107904721379047336E0723849
chr107904736779047903E0724003
chr107905353179053616E07210167
chr107905361979053761E07210255
chr107905397379054066E07210609
chr107906972779069815E07226363
chr107906990479069954E07226540
chr107906996279070070E07226598
chr107907011679070676E07226752
chr107907081679070861E07227452
chr107907092479071011E07227560
chr107907101279071297E07227648
chr107907156179071699E07228197
chr107907827779078331E07234913
chr107907856679078792E07235202
chr107909180379091870E07248439
chr107909200379092043E07248639
chr107909206679092279E07248702
chr107909231779092460E07248953
chr107909268879093017E07249324
chr107900237179003372E073-39992
chr107900337379003631E073-39733
chr107900574479006187E073-37177
chr107900622479006335E073-37029
chr107900651279006734E073-36630
chr107900675879007577E073-35787
chr107902606379026326E073-17038
chr107902781579027932E073-15432
chr107903466779034748E073-8616
chr107904661979047121E0733255
chr107904721379047336E0733849
chr107904736779047903E0734003
chr107904790879048052E0734544
chr107906791879068012E07324554
chr107906810779068582E07324743
chr107906876579068883E07325401
chr107906972779069815E07326363
chr107906990479069954E07326540
chr107906996279070070E07326598
chr107907011679070676E07326752
chr107907081679070861E07327452
chr107907092479071011E07327560
chr107907101279071297E07327648
chr107907156179071699E07328197
chr107907827779078331E07334913
chr107907919779079340E07335833
chr107907937779079625E07336013
chr107907964679079754E07336282
chr107909200379092043E07348639
chr107909206679092279E07348702
chr107909231779092460E07348953
chr107909268879093017E07349324
chr107905397379054066E07410609
chr107905412079054241E07410756
chr107907535779075509E07431993
chr107899985479000708E081-42656
chr107900237179003372E081-39992
chr107900337379003631E081-39733
chr107900651279006734E081-36630
chr107900675879007577E081-35787
chr107900763179007709E081-35655
chr107900774779008451E081-34913
chr107900854879008646E081-34718
chr107900892879009038E081-34326
chr107900952879010236E081-33128
chr107901080479010873E081-32491
chr107901101979011072E081-32292
chr107901109879011323E081-32041
chr107901150279011603E081-31761
chr107901166179011715E081-31649
chr107901173979011789E081-31575
chr107901188479011938E081-31426
chr107901218079012268E081-31096
chr107901230679012520E081-30844
chr107901268779012849E081-30515
chr107901288879013341E081-30023
chr107904507579045159E0811711
chr107904651079046560E0813146
chr107904661979047121E0813255
chr107904721379047336E0813849
chr107904736779047903E0814003
chr107905353179053616E08110167
chr107905361979053761E08110255
chr107907011679070676E08126752
chr107907081679070861E08127452
chr107907092479071011E08127560
chr107907101279071297E08127648
chr107907156179071699E08128197
chr107907827779078331E08134913
chr107907856679078792E08135202
chr107907919779079340E08135833
chr107899985479000708E082-42656
chr107900651279006734E082-36630
chr107900675879007577E082-35787
chr107904661979047121E0823255
chr107904721379047336E0823849
chr107904736779047903E0824003