rs422945

Homo sapiens
T>G
NAE1 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0299 (8977/29934,GnomAD)
G=0271 (7917/29118,TOPMED)
G=0348 (1742/5008,1000G)
G=0348 (1343/3854,ALSPAC)
G=0342 (1269/3708,TWINSUK)
chr16:66832730 (GRCh38.p7) (16q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.66832730T>G
GRCh37.p13 chr 16NC_000016.9:g.66866633T>G

Gene: NAE1, NEDD8 activating enzyme E1 subunit 1(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
NAE1 transcript variant 2NM_001018159.1:c.N/AUpstream Transcript Variant
NAE1 transcript variant 3NM_001018160.1:c.N/AUpstream Transcript Variant
NAE1 transcript variant 4NM_001286500.1:c.N/AUpstream Transcript Variant
NAE1 transcript variant 1NM_003905.3:c.N/AUpstream Transcript Variant
NAE1 transcript variant X1XM_005256215.1:c.N/AUpstream Transcript Variant
NAE1 transcript variant X2XM_011523422.2:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.930G=0.070
1000GenomesAmericanSub694T=0.600G=0.400
1000GenomesEast AsianSub1008T=0.385G=0.615
1000GenomesEuropeSub1006T=0.641G=0.359
1000GenomesGlobalStudy-wide5008T=0.652G=0.348
1000GenomesSouth AsianSub978T=0.600G=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.652G=0.348
The Genome Aggregation DatabaseAfricanSub8718T=0.877G=0.123
The Genome Aggregation DatabaseAmericanSub836T=0.520G=0.480
The Genome Aggregation DatabaseEast AsianSub1614T=0.403G=0.597
The Genome Aggregation DatabaseEuropeSub18464T=0.653G=0.347
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.700G=0.299
The Genome Aggregation DatabaseOtherSub302T=0.560G=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.728G=0.271
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.658G=0.342
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs4229457E-05alcoholism (heaviness of drinking)21529783

eQTL of rs422945 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr16:66866633RP11-63M22.2ENSG00000260465.1T>G2.9202e-2101640Cerebellum
Chr16:66866633ELMO3ENSG00000102890.10T>G0.0000e+0-366381Cerebellum

meQTL of rs422945 in Fetal Brain

Probe ID Position Gene beta p-value
cg11258532chr16:66877873CA70.0268757040233421.8501e-10

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 )
chr166685953366859625E067-7008
chr166686030966860450E067-6183
chr166686053866860588E067-6045
chr166686240566862531E067-4102
chr166686281166863012E067-3621
chr166686306466863174E067-3459
chr166688082866880882E06714195
chr166688093766881004E06714304
chr166688104466881160E06714411
chr166688125666881306E06714623
chr166688145066881500E06714817
chr166689401066894138E06727377
chr166691596366916136E06749330
chr166691615166916216E06749518
chr166686189366862001E068-4632
chr166686281166863012E068-3621
chr166686306466863174E068-3459
chr166691559166915814E06848958
chr166691596366916136E06849330
chr166686281166863012E069-3621
chr166686306466863174E069-3459
chr166691596366916136E06949330
chr166691615166916216E06949518
chr166686240566862531E070-4102
chr166686281166863012E071-3621
chr166686306466863174E071-3459
chr166691559166915814E07148958
chr166691596366916136E07149330
chr166691615166916216E07149518
chr166691625966916333E07149626
chr166686030966860450E072-6183
chr166686053866860588E072-6045
chr166686281166863012E072-3621
chr166686306466863174E072-3459
chr166687704966877104E07210416
chr166688082866880882E07214195
chr166688093766881004E07214304
chr166688104466881160E07214411
chr166689295566893458E07226322
chr166689355466893604E07226921
chr166689373466893803E07227101
chr166689387066893933E07227237
chr166689401066894138E07227377
chr166691559166915814E07248958
chr166686281166863012E073-3621
chr166686306466863174E073-3459
chr166687711966877339E07310486
chr166688082866880882E07314195
chr166688093766881004E07314304
chr166688104466881160E07314411
chr166689295566893458E07326322
chr166689355466893604E07326921
chr166689373466893803E07327101
chr166689387066893933E07327237
chr166689401066894138E07327377
chr166691559166915814E07348958
chr166691596366916136E07349330
chr166686053866860588E074-6045
chr166686306466863174E074-3459
chr166686281166863012E081-3621
chr166686306466863174E081-3459
chr166686030966860450E082-6183
chr166686240566862531E082-4102










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr166686408066864128E067-2505
chr166686412966865515E067-1118
chr166687769766878720E06711064
chr166687877266878839E06712139
chr166687890166879070E06712268
chr166687982166880032E06713188
chr166688005766880301E06713424
chr166688037966880469E06713746
chr166691365166915287E06747018
chr166691539266915575E06748759
chr166686408066864128E068-2505
chr166686412966865515E068-1118
chr166687769766878720E06811064
chr166687877266878839E06812139
chr166687890166879070E06812268
chr166687982166880032E06813188
chr166688005766880301E06813424
chr166688037966880469E06813746
chr166691365166915287E06847018
chr166691539266915575E06848759
chr166686408066864128E069-2505
chr166686412966865515E069-1118
chr166687769766878720E06911064
chr166687877266878839E06912139
chr166687890166879070E06912268
chr166687982166880032E06913188
chr166691365166915287E06947018
chr166691539266915575E06948759
chr166686408066864128E070-2505
chr166686412966865515E070-1118
chr166691365166915287E07047018
chr166691539266915575E07048759
chr166686408066864128E071-2505
chr166686412966865515E071-1118
chr166691365166915287E07147018
chr166691539266915575E07148759
chr166686408066864128E072-2505
chr166686412966865515E072-1118
chr166687769766878720E07211064
chr166687877266878839E07212139
chr166687890166879070E07212268
chr166687982166880032E07213188
chr166688005766880301E07213424
chr166688037966880469E07213746
chr166691365166915287E07247018
chr166686408066864128E073-2505
chr166686412966865515E073-1118
chr166687769766878720E07311064
chr166687877266878839E07312139
chr166687890166879070E07312268
chr166687982166880032E07313188
chr166688005766880301E07313424
chr166688037966880469E07313746
chr166691365166915287E07347018
chr166691539266915575E07348759
chr166686408066864128E074-2505
chr166686412966865515E074-1118
chr166687769766878720E07411064
chr166687877266878839E07412139
chr166687890166879070E07412268
chr166691365166915287E07447018
chr166691539266915575E07448759
chr166686412966865515E081-1118
chr166691365166915287E08147018
chr166686408066864128E082-2505
chr166686412966865515E082-1118
chr166687769766878720E08211064
chr166691365166915287E08247018
chr166691539266915575E08248759