rs2390794

Homo sapiens
G>A
LRRC8C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0303 (9064/29872,GnomAD)
A=0272 (7943/29118,TOPMED)
A=0281 (1408/5008,1000G)
A=0339 (1308/3854,ALSPAC)
A=0335 (1241/3708,TWINSUK)
chr1:89660007 (GRCh38.p7) (1p22.2)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.89660007G>A
GRCh37.p13 chr 1NC_000001.10:g.90125566G>A

Gene: LRRC8C, leucine-rich repeat containing 8 family member C(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LRRC8C transcriptNM_032270.4:c.N/AIntron Variant
LRRC8C transcript variant X2XM_011542282.2:c.N/AIntron Variant
LRRC8C transcript variant X3XM_017002503.1:c.N/AIntron Variant
LRRC8C transcript variant X5XM_017002504.1:c.N/AIntron Variant
LRRC8C transcript variant X1XM_006710960.3:c.N/AGenic Upstream Transcript Variant
LRRC8C transcript variant X4XM_011542283.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.792A=0.208
1000GenomesAmericanSub694G=0.660A=0.340
1000GenomesEast AsianSub1008G=0.646A=0.354
1000GenomesEuropeSub1006G=0.713A=0.287
1000GenomesGlobalStudy-wide5008G=0.719A=0.281
1000GenomesSouth AsianSub978G=0.740A=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.661A=0.339
The Genome Aggregation DatabaseAfricanSub8670G=0.778A=0.222
The Genome Aggregation DatabaseAmericanSub834G=0.600A=0.400
The Genome Aggregation DatabaseEast AsianSub1606G=0.624A=0.376
The Genome Aggregation DatabaseEuropeSub18460G=0.669A=0.330
The Genome Aggregation DatabaseGlobalStudy-wide29872G=0.696A=0.303
The Genome Aggregation DatabaseOtherSub302G=0.670A=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.727A=0.272
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.665A=0.335
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs23907940.000123nicotine smoking19268276

eQTL of rs2390794 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 rs2390794 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 )
chr19008135790081515E067-44051
chr19008153190082042E067-43524
chr19008251090082621E067-42945
chr19008284190083254E067-42312
chr19008974590090242E067-35324
chr19009198690092088E067-33478
chr19009219390092343E067-33223
chr19009246690092682E067-32884
chr19009288390093505E067-32061
chr19009373490093797E067-31769
chr19009484590094935E067-30631
chr19009499190095069E067-30497
chr19009530890095397E067-30169
chr19009564290095682E067-29884
chr19009576290095896E067-29670
chr19009604390096110E067-29456
chr19009644490096544E067-29022
chr19009695790097060E067-28506
chr19009714290097182E067-28384
chr19012347290123854E067-1712
chr19012500490125162E067-404
chr19012529490125695E0670
chr19012573590127057E067169
chr19012743090127507E0671864
chr19013322890133321E0677662
chr19013332790133903E0677761
chr19016712790167203E06741561
chr19016736890167565E06741802
chr19016761390167751E06742047
chr19017466690174821E06749100
chr19017485490174954E06749288
chr19008135790081515E068-44051
chr19008153190082042E068-43524
chr19008251090082621E068-42945
chr19008284190083254E068-42312
chr19008974590090242E068-35324
chr19009052890090681E068-34885
chr19009069290090740E068-34826
chr19009198690092088E068-33478
chr19009219390092343E068-33223
chr19009246690092682E068-32884
chr19009280590092878E068-32688
chr19009288390093505E068-32061
chr19009484590094935E068-30631
chr19009499190095069E068-30497
chr19009530890095397E068-30169
chr19009564290095682E068-29884
chr19009576290095896E068-29670
chr19009604390096110E068-29456
chr19009644490096544E068-29022
chr19010141390102245E068-23321
chr19012500490125162E068-404
chr19012529490125695E0680
chr19012573590127057E068169
chr19013572590136032E06810159
chr19013728990137368E06811723
chr19016406990164119E06838503
chr19016427390164323E06838707
chr19016435590164476E06838789
chr19016490190165015E06839335
chr19016712790167203E06841561
chr19016736890167565E06841802
chr19016761390167751E06842047
chr19017438990174508E06848823
chr19017466690174821E06849100
chr19017485490174954E06849288
chr19008135790081515E069-44051
chr19008153190082042E069-43524
chr19008251090082621E069-42945
chr19008284190083254E069-42312
chr19008403190084091E069-41475
chr19008974590090242E069-35324
chr19009052890090681E069-34885
chr19009069290090740E069-34826
chr19009198690092088E069-33478
chr19009219390092343E069-33223
chr19009246690092682E069-32884
chr19009280590092878E069-32688
chr19009288390093505E069-32061
chr19009373490093797E069-31769
chr19009484590094935E069-30631
chr19009499190095069E069-30497
chr19009530890095397E069-30169
chr19009564290095682E069-29884
chr19009576290095896E069-29670
chr19009604390096110E069-29456
chr19009644490096544E069-29022
chr19009695790097060E069-28506
chr19009714290097182E069-28384
chr19010320390103278E069-22288
chr19012171490121808E069-3758
chr19012210890122188E069-3378
chr19012529490125695E0690
chr19012573590127057E069169
chr19015632990156383E06930763
chr19016712790167203E06941561
chr19016736890167565E06941802
chr19016761390167751E06942047
chr19017438990174508E06948823
chr19017466690174821E06949100
chr19017485490174954E06949288
chr19008135790081515E071-44051
chr19008153190082042E071-43524
chr19008251090082621E071-42945
chr19008284190083254E071-42312
chr19008403190084091E071-41475
chr19008974590090242E071-35324
chr19009052890090681E071-34885
chr19009069290090740E071-34826
chr19009198690092088E071-33478
chr19009219390092343E071-33223
chr19009246690092682E071-32884
chr19009280590092878E071-32688
chr19009288390093505E071-32061
chr19009373490093797E071-31769
chr19009484590094935E071-30631
chr19009499190095069E071-30497
chr19009530890095397E071-30169
chr19009564290095682E071-29884
chr19009576290095896E071-29670
chr19009604390096110E071-29456
chr19009644490096544E071-29022
chr19010141390102245E071-23321
chr19011532990115530E071-10036
chr19012477790124827E071-739
chr19012487890124927E071-639
chr19012500490125162E071-404
chr19012529490125695E0710
chr19012573590127057E071169
chr19012743090127507E0711864
chr19013322890133321E0717662
chr19013332790133903E0717761
chr19015785290158149E07132286
chr19015818090158764E07132614
chr19016078590160892E07135219
chr19016103490161085E07135468
chr19016158290161776E07136016
chr19016188590161943E07136319
chr19016219090162250E07136624
chr19016712790167203E07141561
chr19016736890167565E07141802
chr19016761390167751E07142047
chr19017438990174508E07148823
chr19008135790081515E072-44051
chr19008153190082042E072-43524
chr19008251090082621E072-42945
chr19008284190083254E072-42312
chr19008974590090242E072-35324
chr19009052890090681E072-34885
chr19009069290090740E072-34826
chr19009198690092088E072-33478
chr19009219390092343E072-33223
chr19009246690092682E072-32884
chr19009373490093797E072-31769
chr19009484590094935E072-30631
chr19009499190095069E072-30497
chr19009530890095397E072-30169
chr19009564290095682E072-29884
chr19009576290095896E072-29670
chr19009604390096110E072-29456
chr19009644490096544E072-29022
chr19009695790097060E072-28506
chr19009714290097182E072-28384
chr19010141390102245E072-23321
chr19012347290123854E072-1712
chr19012500490125162E072-404
chr19012529490125695E0720
chr19012573590127057E072169
chr19012743090127507E0721864
chr19012781190127877E0722245
chr19013160990131791E0726043
chr19013728990137368E07211723
chr19013773990138192E07212173
chr19016712790167203E07241561
chr19016736890167565E07241802
chr19016761390167751E07242047
chr19017438990174508E07248823
chr19017466690174821E07249100
chr19017485490174954E07249288
chr19008135790081515E073-44051
chr19008153190082042E073-43524
chr19008251090082621E073-42945
chr19009288390093505E073-32061
chr19009484590094935E073-30631
chr19009499190095069E073-30497
chr19009644490096544E073-29022
chr19009695790097060E073-28506
chr19009714290097182E073-28384
chr19010885890108923E073-16643
chr19012529490125695E0730
chr19012573590127057E073169
chr19016736890167565E07341802
chr19016761390167751E07342047
chr19017466690174821E07349100
chr19017485490174954E07349288
chr19008153190082042E074-43524
chr19008251090082621E074-42945
chr19008284190083254E074-42312
chr19008403190084091E074-41475
chr19008974590090242E074-35324
chr19009052890090681E074-34885
chr19009069290090740E074-34826
chr19009198690092088E074-33478
chr19009219390092343E074-33223
chr19009246690092682E074-32884
chr19009280590092878E074-32688
chr19009288390093505E074-32061
chr19009373490093797E074-31769
chr19009484590094935E074-30631
chr19009499190095069E074-30497
chr19009530890095397E074-30169
chr19009564290095682E074-29884
chr19009576290095896E074-29670
chr19009604390096110E074-29456
chr19009644490096544E074-29022
chr19009695790097060E074-28506
chr19009714290097182E074-28384
chr19010141390102245E074-23321
chr19012210890122188E074-3378
chr19012347290123854E074-1712
chr19012406790124154E074-1412
chr19012430390124353E074-1213
chr19012477790124827E074-739
chr19012487890124927E074-639
chr19012500490125162E074-404
chr19012529490125695E0740
chr19012573590127057E074169
chr19016641790166467E07440851
chr19016712790167203E07441561
chr19016736890167565E07441802
chr19016761390167751E07442047
chr19008135790081515E082-44051
chr19008153190082042E082-43524








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr19009742890100112E067-25454
chr19010013690100204E067-25362
chr19010021390100322E067-25244
chr19010037590100443E067-25123
chr19009742890100112E068-25454
chr19010013690100204E068-25362
chr19010021390100322E068-25244
chr19010037590100443E068-25123
chr19009742890100112E069-25454
chr19010013690100204E069-25362
chr19010021390100322E069-25244
chr19010037590100443E069-25123
chr19009742890100112E070-25454
chr19009742890100112E071-25454
chr19010013690100204E071-25362
chr19010021390100322E071-25244
chr19010037590100443E071-25123
chr19009742890100112E072-25454
chr19010013690100204E072-25362
chr19010021390100322E072-25244
chr19010037590100443E072-25123
chr19009742890100112E073-25454
chr19010013690100204E073-25362
chr19010021390100322E073-25244
chr19010037590100443E073-25123
chr19009742890100112E074-25454
chr19010013690100204E074-25362
chr19009742890100112E081-25454
chr19010013690100204E081-25362
chr19009742890100112E082-25454
chr19010013690100204E082-25362
chr19010021390100322E082-25244
chr19010037590100443E082-25123