rs10494765

Homo sapiens
T>G
NEK7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0100 (3021/29968,GnomAD)
G=0112 (3282/29118,TOPMED)
G=0136 (683/5008,1000G)
G=0052 (202/3854,ALSPAC)
G=0051 (189/3708,TWINSUK)
chr1:198245912 (GRCh38.p7) (1q31.3)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.198245912T>G
GRCh37.p13 chr 1NC_000001.10:g.198215042T>G

Gene: NEK7, NIMA related kinase 7(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NEK7 transcriptNM_133494.2:c.N/AIntron Variant
NEK7 transcript variant X6XM_011509209.1:c.N/AIntron Variant
NEK7 transcript variant X1XM_017000344.1:c.N/AIntron Variant
NEK7 transcript variant X2XM_017000345.1:c.N/AIntron Variant
NEK7 transcript variant X3XM_017000346.1:c.N/AIntron Variant
NEK7 transcript variant X4XM_017000347.1:c.N/AIntron Variant
NEK7 transcript variant X5XM_017000348.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.829G=0.171
1000GenomesAmericanSub694T=0.900G=0.100
1000GenomesEast AsianSub1008T=0.760G=0.240
1000GenomesEuropeSub1006T=0.943G=0.057
1000GenomesGlobalStudy-wide5008T=0.864G=0.136
1000GenomesSouth AsianSub978T=0.910G=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.948G=0.052
The Genome Aggregation DatabaseAfricanSub8722T=0.839G=0.161
The Genome Aggregation DatabaseAmericanSub836T=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1616T=0.816G=0.184
The Genome Aggregation DatabaseEuropeSub18492T=0.936G=0.064
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.899G=0.100
The Genome Aggregation DatabaseOtherSub302T=0.950G=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.887G=0.112
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.949G=0.051
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs104947650.000474nicotine dependence17158188

eQTL of rs10494765 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 rs10494765 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 )
chr1198167287198167337E067-47705
chr1198167672198167744E067-47298
chr1198168369198168518E067-46524
chr1198170755198170811E067-44231
chr1198171027198171109E067-43933
chr1198171223198171464E067-43578
chr1198171571198171786E067-43256
chr1198172633198172867E067-42175
chr1198174227198174397E067-40645
chr1198203658198204004E067-11038
chr1198204103198204252E067-10790
chr1198234177198234919E06719135
chr1198165590198165724E068-49318
chr1198167287198167337E068-47705
chr1198170119198170185E068-44857
chr1198170755198170811E068-44231
chr1198171027198171109E068-43933
chr1198171223198171464E068-43578
chr1198171571198171786E068-43256
chr1198172633198172867E068-42175
chr1198174227198174397E068-40645
chr1198189034198189228E068-25814
chr1198189316198189460E068-25582
chr1198189685198189908E068-25134
chr1198203658198204004E068-11038
chr1198214303198214587E068-455
chr1198214672198214830E068-212
chr1198234177198234919E06819135
chr1198264401198264696E06849359
chr1198167287198167337E069-47705
chr1198167672198167744E069-47298
chr1198168369198168518E069-46524
chr1198170119198170185E069-44857
chr1198170755198170811E069-44231
chr1198171027198171109E069-43933
chr1198171223198171464E069-43578
chr1198171571198171786E069-43256
chr1198172633198172867E069-42175
chr1198174227198174397E069-40645
chr1198198124198198322E069-16720
chr1198203658198204004E069-11038
chr1198204103198204252E069-10790
chr1198215381198215887E069339
chr1198234177198234919E06919135
chr1198167672198167744E070-47298
chr1198174227198174397E070-40645
chr1198215381198215887E070339
chr1198245499198245631E07030457
chr1198245734198245788E07030692
chr1198167672198167744E071-47298
chr1198168369198168518E071-46524
chr1198170119198170185E071-44857
chr1198170755198170811E071-44231
chr1198171027198171109E071-43933
chr1198171223198171464E071-43578
chr1198171571198171786E071-43256
chr1198174227198174397E071-40645
chr1198203658198204004E071-11038
chr1198204103198204252E071-10790
chr1198237858198238218E07122816
chr1198238244198239007E07123202
chr1198264401198264696E07149359
chr1198167287198167337E072-47705
chr1198171223198171464E072-43578
chr1198171571198171786E072-43256
chr1198172633198172867E072-42175
chr1198203658198204004E072-11038
chr1198204103198204252E072-10790
chr1198234177198234919E07219135
chr1198238244198239007E07223202
chr1198171571198171786E073-43256
chr1198172633198172867E073-42175
chr1198203658198204004E073-11038
chr1198204103198204252E073-10790
chr1198234177198234919E07319135
chr1198167287198167337E074-47705
chr1198167672198167744E074-47298
chr1198168369198168518E074-46524
chr1198170755198170811E074-44231
chr1198171027198171109E074-43933
chr1198171223198171464E074-43578
chr1198171571198171786E074-43256
chr1198203658198204004E074-11038
chr1198204103198204252E074-10790
chr1198214144198214259E074-783
chr1198214303198214587E074-455
chr1198214672198214830E074-212
chr1198234177198234919E07419135
chr1198237627198237687E07422585
chr1198237858198238218E07422816
chr1198174227198174397E081-40645
chr1198214303198214587E081-455
chr1198214672198214830E081-212
chr1198257408198257532E08142366
chr1198264401198264696E08149359
chr1198256992198257340E08241950
chr1198257408198257532E08242366