rs363175

Homo sapiens
C>T
NAE1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0298 (8934/29918,GnomAD)
T=0269 (7860/29118,TOPMED)
T=0345 (1730/5008,1000G)
T=0348 (1340/3854,ALSPAC)
T=0341 (1266/3708,TWINSUK)
chr16:66821744 (GRCh38.p7) (16q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
51 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.66821744C>T
GRCh37.p13 chr 16NC_000016.9:g.66855647C>T

Gene: NAE1, NEDD8 activating enzyme E1 subunit 1(minus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.937T=0.063
1000GenomesAmericanSub694C=0.600T=0.400
1000GenomesEast AsianSub1008C=0.386T=0.614
1000GenomesEuropeSub1006C=0.641T=0.359
1000GenomesGlobalStudy-wide5008C=0.655T=0.345
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.652T=0.348
The Genome Aggregation DatabaseAfricanSub8710C=0.882T=0.118
The Genome Aggregation DatabaseAmericanSub838C=0.520T=0.480
The Genome Aggregation DatabaseEast AsianSub1610C=0.404T=0.596
The Genome Aggregation DatabaseEuropeSub18462C=0.652T=0.347
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.701T=0.298
The Genome Aggregation DatabaseOtherSub298C=0.560T=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.730T=0.269
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.659T=0.341
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
rs3631757.1E-05alcoholism (heaviness of drinking)21529783

eQTL of rs363175 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr16:66855647ELMO3ENSG00000102890.10C>T0.0000e+0-377367Cerebellum

meQTL of rs363175 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 )
chr166685953366859625E0673886
chr166686030966860450E0674662
chr166686053866860588E0674891
chr166686240566862531E0676758
chr166686281166863012E0677164
chr166686306466863174E0677417
chr166688082866880882E06725181
chr166688093766881004E06725290
chr166688104466881160E06725397
chr166688125666881306E06725609
chr166688145066881500E06725803
chr166689401066894138E06738363
chr166686189366862001E0686246
chr166686281166863012E0687164
chr166686306466863174E0687417
chr166686281166863012E0697164
chr166686306466863174E0697417
chr166686240566862531E0706758
chr166686281166863012E0717164
chr166686306466863174E0717417
chr166686030966860450E0724662
chr166686053866860588E0724891
chr166686281166863012E0727164
chr166686306466863174E0727417
chr166687704966877104E07221402
chr166688082866880882E07225181
chr166688093766881004E07225290
chr166688104466881160E07225397
chr166689295566893458E07237308
chr166689355466893604E07237907
chr166689373466893803E07238087
chr166689387066893933E07238223
chr166689401066894138E07238363
chr166686281166863012E0737164
chr166686306466863174E0737417
chr166687711966877339E07321472
chr166688082866880882E07325181
chr166688093766881004E07325290
chr166688104466881160E07325397
chr166689295566893458E07337308
chr166689355466893604E07337907
chr166689373466893803E07338087
chr166689387066893933E07338223
chr166689401066894138E07338363
chr166686053866860588E0744891
chr166686306466863174E0747417
chr166686281166863012E0817164
chr166686306466863174E0817417
chr166686030966860450E0824662
chr166686240566862531E0826758










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr166686408066864128E0678433
chr166686412966865515E0678482
chr166687769766878720E06722050
chr166687877266878839E06723125
chr166687890166879070E06723254
chr166687982166880032E06724174
chr166688005766880301E06724410
chr166688037966880469E06724732
chr166686408066864128E0688433
chr166686412966865515E0688482
chr166687769766878720E06822050
chr166687877266878839E06823125
chr166687890166879070E06823254
chr166687982166880032E06824174
chr166688005766880301E06824410
chr166688037966880469E06824732
chr166686408066864128E0698433
chr166686412966865515E0698482
chr166687769766878720E06922050
chr166687877266878839E06923125
chr166687890166879070E06923254
chr166687982166880032E06924174
chr166686408066864128E0708433
chr166686412966865515E0708482
chr166686408066864128E0718433
chr166686412966865515E0718482
chr166686408066864128E0728433
chr166686412966865515E0728482
chr166687769766878720E07222050
chr166687877266878839E07223125
chr166687890166879070E07223254
chr166687982166880032E07224174
chr166688005766880301E07224410
chr166688037966880469E07224732
chr166686408066864128E0738433
chr166686412966865515E0738482
chr166687769766878720E07322050
chr166687877266878839E07323125
chr166687890166879070E07323254
chr166687982166880032E07324174
chr166688005766880301E07324410
chr166688037966880469E07324732
chr166686408066864128E0748433
chr166686412966865515E0748482
chr166687769766878720E07422050
chr166687877266878839E07423125
chr166687890166879070E07423254
chr166686412966865515E0818482
chr166686408066864128E0828433
chr166686412966865515E0828482
chr166687769766878720E08222050