rs1056104

Homo sapiens
G>A / G>C
GEMIN6 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0064 (1944/29974,GnomAD)
G==0057 (748/13006,GO-ESP)
A=0115 (577/5008,1000G)
A=0073 (283/3854,ALSPAC)
A=0071 (262/3708,TWINSUK)
chr2:38781807 (GRCh38.p7) (2p22.1)
ND
GWASdb2
2   publication(s)
See rs on genome
137 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.38781807G>A
GRCh38.p7 chr 2NC_000002.12:g.38781807G>C
GRCh37.p13 chr 2NC_000002.11:g.39008949G>A
GRCh37.p13 chr 2NC_000002.11:g.39008949G>C

Gene: GEMIN6, gem nuclear organelle associated protein 6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GEMIN6 transcriptNM_024775.9:c.419G>AG [GGT]> D [GAT]Coding Sequence Variant
gem-associated protein 6NP_079051.9:p.Gly...NP_079051.9:p.Gly140AspG [Gly]> D [Asp]Missense Variant
GEMIN6 transcriptNM_024775.9:c.419G>CG [GGT]> A [GCT]Coding Sequence Variant
gem-associated protein 6NP_079051.9:p.Gly...NP_079051.9:p.Gly140AlaG [Gly]> A [Ala]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.997A=0.003
1000GenomesAmericanSub694G=0.890A=0.110
1000GenomesEast AsianSub1008G=0.747A=0.253
1000GenomesEuropeSub1006G=0.923A=0.077
1000GenomesGlobalStudy-wide5008G=0.885A=0.115
1000GenomesSouth AsianSub978G=0.830A=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.927A=0.073
The Genome Aggregation DatabaseAfricanSub8724G=0.986A=0.014
The Genome Aggregation DatabaseAmericanSub838G=0.900A=0.100
The Genome Aggregation DatabaseEast AsianSub1610G=0.713A=0.287
The Genome Aggregation DatabaseEuropeSub18500G=0.932A=0.067
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.935A=0.064
The Genome Aggregation DatabaseOtherSub302G=0.900A=0.100
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.929A=0.071
PMID Title Author Journal
23643383Genome-wide association analysis for multiple continuous secondary phenotypes.Schifano EDAm J Hum Genet
16251468Survey of allelic expression using EST mining.Ge BGenome Res

P-Value

SNP ID p-value Traits Study
rs10561045.74E-06nicotine dependence (smoking)23643383

eQTL of rs1056104 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 rs1056104 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 )
chr24835839948358465E067-47786
chr24835849548358550E067-47701
chr24835857048358657E067-47594
chr24835870148358774E067-47477
chr24835879348359784E067-46467
chr24842335848423738E06717107
chr24842380248423958E06717551
chr24842431248424564E06718061
chr24843190248431973E06725651
chr24843208448433008E06725833
chr24843332448433461E06727073
chr24843432548434707E06728074
chr24843476048434857E06728509
chr24843631148436367E06730060
chr24843642148436624E06730170
chr24843671848436958E06730467
chr24837640948376529E068-29722
chr24842317748423301E06816926
chr24842335848423738E06817107
chr24842380248423958E06817551
chr24842431248424564E06818061
chr24842632048426392E06820069
chr24842641148426492E06820160
chr24843190248431973E06825651
chr24843432548434707E06828074
chr24843476048434857E06828509
chr24843631148436367E06830060
chr24843642148436624E06830170
chr24843671848436958E06830467
chr24835839948358465E069-47786
chr24835849548358550E069-47701
chr24835857048358657E069-47594
chr24835870148358774E069-47477
chr24842317748423301E06916926
chr24842335848423738E06917107
chr24842380248423958E06917551
chr24842632048426392E06920069
chr24842641148426492E06920160
chr24843190248431973E06925651
chr24843332448433461E06927073
chr24843432548434707E06928074
chr24843476048434857E06928509
chr24843631148436367E06930060
chr24843642148436624E06930170
chr24843671848436958E06930467
chr24835879348359784E070-46467
chr24843642148436624E07030170
chr24843671848436958E07030467
chr24835839948358465E071-47786
chr24835849548358550E071-47701
chr24835857048358657E071-47594
chr24835870148358774E071-47477
chr24835879348359784E071-46467
chr24837611248376323E071-29928
chr24837640948376529E071-29722
chr24842267748422734E07116426
chr24842317748423301E07116926
chr24842335848423738E07117107
chr24842380248423958E07117551
chr24842431248424564E07118061
chr24842632048426392E07120069
chr24842641148426492E07120160
chr24843190248431973E07125651
chr24843208448433008E07125833
chr24843332448433461E07127073
chr24843432548434707E07128074
chr24843476048434857E07128509
chr24843631148436367E07130060
chr24843642148436624E07130170
chr24843671848436958E07130467
chr24835839948358465E072-47786
chr24835849548358550E072-47701
chr24835857048358657E072-47594
chr24842267748422734E07216426
chr24842317748423301E07216926
chr24842335848423738E07217107
chr24842380248423958E07217551
chr24842431248424564E07218061
chr24842632048426392E07220069
chr24842641148426492E07220160
chr24843190248431973E07225651
chr24843332448433461E07227073
chr24843432548434707E07228074
chr24843476048434857E07228509
chr24843631148436367E07230060
chr24843642148436624E07230170
chr24843671848436958E07230467
chr24842317748423301E07316926
chr24842335848423738E07317107
chr24842380248423958E07317551
chr24842431248424564E07318061
chr24843432548434707E07328074
chr24843476048434857E07328509
chr24843631148436367E07330060
chr24843642148436624E07330170
chr24843671848436958E07330467
chr24835839948358465E074-47786
chr24835849548358550E074-47701
chr24835857048358657E074-47594
chr24835870148358774E074-47477
chr24835879348359784E074-46467
chr24837201248372213E074-34038
chr24837261448372730E074-33521
chr24837611248376323E074-29928
chr24842267748422734E07416426
chr24842317748423301E07416926
chr24842335848423738E07417107
chr24842380248423958E07417551
chr24842431248424564E07418061
chr24842632048426392E07420069
chr24842641148426492E07420160
chr24843190248431973E07425651
chr24843332448433461E07427073
chr24843432548434707E07428074
chr24843476048434857E07428509
chr24843502248435302E07428771
chr24843631148436367E07430060
chr24843642148436624E07430170
chr24843671848436958E07430467
chr24835839948358465E081-47786
chr24835849548358550E081-47701
chr24835857048358657E081-47594
chr24835870148358774E081-47477
chr24835879348359784E081-46467
chr24839848448398613E081-7638
chr24839874648398817E081-7434
chr24839894848399098E081-7153
chr24839910048399150E081-7101
chr24842317748423301E08116926
chr24842335848423738E08117107
chr24842380248423958E08117551
chr24835839948358465E082-47786
chr24835849548358550E082-47701
chr24835857048358657E082-47594
chr24835870148358774E082-47477
chr24835879348359784E082-46467
chr24842335848423738E08217107