rs11690205

Homo sapiens
C>T
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0414 (12076/29118,TOPMED)
T=0410 (11814/28818,GnomAD)
T=0400 (2005/5008,1000G)
C==0483 (1863/3854,ALSPAC)
C==0491 (1819/3708,TWINSUK)
chr2:198069224 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
130 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.198069224C>T
GRCh37.p13 chr 2NC_000002.11:g.198933948C>T

Gene: PLCL1, phospholipase C like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PLCL1 transcriptNM_006226.3:c.N/AIntron Variant
PLCL1 transcript variant X1XM_005246643.3:c.N/AIntron Variant
PLCL1 transcript variant X3XM_011511351.2:c.N/AIntron Variant
PLCL1 transcript variant X2XM_017004339.1:c.N/AIntron Variant
PLCL1 transcript variant X5XM_017004340.1:c.N/AIntron Variant
PLCL1 transcript variant X4XM_005246644.3:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.715T=0.285
1000GenomesAmericanSub694C=0.590T=0.410
1000GenomesEast AsianSub1008C=0.778T=0.222
1000GenomesEuropeSub1006C=0.449T=0.551
1000GenomesGlobalStudy-wide5008C=0.600T=0.400
1000GenomesSouth AsianSub978C=0.430T=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.483T=0.517
The Genome Aggregation DatabaseAfricanSub8500C=0.692T=0.308
The Genome Aggregation DatabaseAmericanSub804C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1600C=0.807T=0.193
The Genome Aggregation DatabaseEuropeSub17612C=0.519T=0.480
The Genome Aggregation DatabaseGlobalStudy-wide28818C=0.590T=0.410
The Genome Aggregation DatabaseOtherSub302C=0.480T=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.585T=0.414
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.491T=0.509
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs116902055.87E-06alcohol consumption23743675

eQTL of rs11690205 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 rs11690205 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 )
chr2198895311198895383E067-38565
chr2198905291198905433E067-28515
chr2198918578198918696E067-15252
chr2198945273198945529E06711325
chr2198961450198961502E06727502
chr2198961841198961912E06727893
chr2198962411198962470E06728463
chr2198963763198963935E06729815
chr2198965149198965308E06731201
chr2198975540198975603E06741592
chr2198978077198978371E06744129
chr2198894292198894356E068-39592
chr2198905291198905433E068-28515
chr2198905500198905702E068-28246
chr2198919509198919737E068-14211
chr2198919820198920207E068-13741
chr2198920560198920776E068-13172
chr2198922587198922655E068-11293
chr2198930117198930438E068-3510
chr2198945273198945529E06811325
chr2198961841198961912E06827893
chr2198965149198965308E06831201
chr2198895156198895261E069-38687
chr2198895311198895383E069-38565
chr2198895428198895521E069-38427
chr2198902752198902963E069-30985
chr2198905291198905433E069-28515
chr2198905500198905702E069-28246
chr2198906774198907233E069-26715
chr2198917564198917745E069-16203
chr2198917974198918065E069-15883
chr2198918578198918696E069-15252
chr2198930117198930438E069-3510
chr2198945273198945529E06911325
chr2198961841198961912E06927893
chr2198962411198962470E06928463
chr2198963763198963935E06929815
chr2198965149198965308E06931201
chr2198975540198975603E06941592
chr2198978425198978498E06944477
chr2198894809198894947E070-39001
chr2198896952198897006E070-36942
chr2198898314198898364E070-35584
chr2198920560198920776E070-13172
chr2198894292198894356E071-39592
chr2198894442198894522E071-39426
chr2198894809198894947E071-39001
chr2198902752198902963E071-30985
chr2198903313198903359E071-30589
chr2198905291198905433E071-28515
chr2198905500198905702E071-28246
chr2198906774198907233E071-26715
chr2198917564198917745E071-16203
chr2198917974198918065E071-15883
chr2198918578198918696E071-15252
chr2198919150198919308E071-14640
chr2198919509198919737E071-14211
chr2198919820198920207E071-13741
chr2198920560198920776E071-13172
chr2198925168198925266E071-8682
chr2198930117198930438E071-3510
chr2198931481198931548E071-2400
chr2198945273198945529E07111325
chr2198960865198960964E07126917
chr2198961450198961502E07127502
chr2198961841198961912E07127893
chr2198962411198962470E07128463
chr2198963763198963935E07129815
chr2198965149198965308E07131201
chr2198975540198975603E07141592
chr2198977050198977114E07143102
chr2198981402198981945E07147454
chr2198982067198982154E07148119
chr2198982183198982417E07148235
chr2198895428198895521E072-38427
chr2198902752198902963E072-30985
chr2198905291198905433E072-28515
chr2198905500198905702E072-28246
chr2198914419198914505E072-19443
chr2198917974198918065E072-15883
chr2198918578198918696E072-15252
chr2198919150198919308E072-14640
chr2198919509198919737E072-14211
chr2198919820198920207E072-13741
chr2198920560198920776E072-13172
chr2198922587198922655E072-11293
chr2198925168198925266E072-8682
chr2198945273198945529E07211325
chr2198961841198961912E07227893
chr2198962411198962470E07228463
chr2198965149198965308E07231201
chr2198975540198975603E07241592
chr2198977050198977114E07243102
chr2198978077198978371E07244129
chr2198918578198918696E073-15252
chr2198919150198919308E073-14640
chr2198919509198919737E073-14211
chr2198962411198962470E07328463
chr2198965149198965308E07331201
chr2198894292198894356E074-39592
chr2198894442198894522E074-39426
chr2198894809198894947E074-39001
chr2198895156198895261E074-38687
chr2198895311198895383E074-38565
chr2198902752198902963E074-30985
chr2198905291198905433E074-28515
chr2198905500198905702E074-28246
chr2198906774198907233E074-26715
chr2198917564198917745E074-16203
chr2198917974198918065E074-15883
chr2198918578198918696E074-15252
chr2198919150198919308E074-14640
chr2198919509198919737E074-14211
chr2198919820198920207E074-13741
chr2198920560198920776E074-13172
chr2198930117198930438E074-3510
chr2198931481198931548E074-2400
chr2198945273198945529E07411325
chr2198961841198961912E07427893
chr2198962411198962470E07428463
chr2198963763198963935E07429815
chr2198965149198965308E07431201
chr2198975540198975603E07441592
chr2198978077198978371E07444129
chr2198978425198978498E07444477
chr2198978866198979373E07444918
chr2198979410198979460E07445462
chr2198979807198979926E07445859
chr2198980083198980143E07446135
chr2198945273198945529E08111325