rs10483422

Homo sapiens
A>G
NPAS3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0090 (2710/29970,GnomAD)
G=0114 (3337/29118,TOPMED)
G=0107 (536/5008,1000G)
G=0028 (108/3854,ALSPAC)
G=0030 (112/3708,TWINSUK)
chr14:33009299 (GRCh38.p7) (14q13.1)
ND
GWASdb2
2   publication(s)
See rs on genome
246 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.33009299A>G
GRCh37.p13 chr 14NC_000014.8:g.33478505A>G
NPAS3 RefSeqGeneNG_013036.1:g.75047A>G

Gene: NPAS3, neuronal PAS domain protein 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NPAS3 transcript variant 1NM_001164749.1:c.N/AIntron Variant
NPAS3 transcript variant 4NM_001165893.1:c.N/AIntron Variant
NPAS3 transcript variant 2NM_022123.2:c.N/AIntron Variant
NPAS3 transcript variant 3NM_173159.2:c.N/AIntron Variant
NPAS3 transcript variant X3XM_005267991.3:c.N/AIntron Variant
NPAS3 transcript variant X4XM_005267992.3:c.N/AIntron Variant
NPAS3 transcript variant X7XM_011537067.2:c.N/AIntron Variant
NPAS3 transcript variant X5XM_011537069.2:c.N/AIntron Variant
NPAS3 transcript variant X10XM_011537070.2:c.N/AIntron Variant
NPAS3 transcript variant X9XM_011537071.2:c.N/AIntron Variant
NPAS3 transcript variant X11XM_011537072.2:c.N/AIntron Variant
NPAS3 transcript variant X1XM_017021582.1:c.N/AIntron Variant
NPAS3 transcript variant X2XM_017021583.1:c.N/AIntron Variant
NPAS3 transcript variant X6XM_017021584.1:c.N/AIntron Variant
NPAS3 transcript variant X8XM_017021585.1:c.N/AIntron Variant
NPAS3 transcript variant X12XM_017021586.1:c.N/AGenic Upstream Transcript Variant
NPAS3 transcript variant X13XM_017021587.1:c.N/AGenic Upstream Transcript Variant
NPAS3 transcript variant X14XM_017021588.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.775G=0.225
1000GenomesAmericanSub694A=0.890G=0.110
1000GenomesEast AsianSub1008A=0.995G=0.005
1000GenomesEuropeSub1006A=0.959G=0.041
1000GenomesGlobalStudy-wide5008A=0.893G=0.107
1000GenomesSouth AsianSub978A=0.880G=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.972G=0.028
The Genome Aggregation DatabaseAfricanSub8712A=0.809G=0.191
The Genome Aggregation DatabaseAmericanSub838A=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1618A=0.998G=0.002
The Genome Aggregation DatabaseEuropeSub18500A=0.950G=0.049
The Genome Aggregation DatabaseGlobalStudy-wide29970A=0.909G=0.090
The Genome Aggregation DatabaseOtherSub302A=0.980G=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.885G=0.114
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.970G=0.030
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
20713499Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.Huang JAm J Psychiatry

P-Value

SNP ID p-value Traits Study
rs104834220.000997nicotine smoking19268276

eQTL of rs10483422 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 rs10483422 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 )
chr143343836133438415E067-40090
chr143344226433442330E067-36175
chr143344236733442558E067-35947
chr143345347233453785E067-24720
chr143345395033454442E067-24063
chr143345558533455804E067-22701
chr143345590333456463E067-22042
chr143345760533457695E067-20810
chr143345777433457852E067-20653
chr143345811033458211E067-20294
chr143345827133458362E067-20143
chr143345899833459048E067-19457
chr143346098833461250E067-17255
chr143346167033461721E067-16784
chr143348055533480595E0672050
chr143348864333488693E06710138
chr143348884733488897E06710342
chr143348896633489040E06710461
chr143349577933495858E06717274
chr143349602333496142E06717518
chr143349618433496644E06717679
chr143349676033497108E06718255
chr143349881433499089E06720309
chr143349913933499346E06720634
chr143349939533500258E06720890
chr143350463333505195E06726128
chr143352676333526822E06748258
chr143352738833527453E06748883
chr143343836133438415E068-40090
chr143344521633445259E068-33246
chr143344530133445376E068-33129
chr143345101833451112E068-27393
chr143345204633452096E068-26409
chr143345347233453785E068-24720
chr143345395033454442E068-24063
chr143345558533455804E068-22701
chr143345590333456463E068-22042
chr143345646433456644E068-21861
chr143345681133456866E068-21639
chr143345691133456965E068-21540
chr143345760533457695E068-20810
chr143345777433457852E068-20653
chr143345811033458211E068-20294
chr143345827133458362E068-20143
chr143346098833461250E068-17255
chr143346449933464539E068-13966
chr143348055533480595E0682050
chr143348632033486471E0687815
chr143348748433487524E0688979
chr143348845933488513E0689954
chr143348864333488693E06810138
chr143348884733488897E06810342
chr143348896633489040E06810461
chr143349566433495742E06817159
chr143349577933495858E06817274
chr143349602333496142E06817518
chr143349618433496644E06817679
chr143349676033497108E06818255
chr143349716333497247E06818658
chr143349881433499089E06820309
chr143349913933499346E06820634
chr143349939533500258E06820890
chr143350463333505195E06826128
chr143350863833508949E06830133
chr143350983833509878E06831333
chr143352676333526822E06848258
chr143352697633527080E06848471
chr143352738833527453E06848883
chr143352817433528275E06849669
chr143352833333528373E06849828
chr143343836133438415E069-40090
chr143344181233441886E069-36619
chr143344226433442330E069-36175
chr143344236733442558E069-35947
chr143345347233453785E069-24720
chr143345395033454442E069-24063
chr143345502633455513E069-22992
chr143345558533455804E069-22701
chr143345590333456463E069-22042
chr143345646433456644E069-21861
chr143345777433457852E069-20653
chr143345811033458211E069-20294
chr143345827133458362E069-20143
chr143346098833461250E069-17255
chr143346167033461721E069-16784
chr143348055533480595E0692050
chr143348845933488513E0699954
chr143348864333488693E06910138
chr143348884733488897E06910342
chr143348896633489040E06910461
chr143349566433495742E06917159
chr143349577933495858E06917274
chr143349602333496142E06917518
chr143349618433496644E06917679
chr143349676033497108E06918255
chr143349716333497247E06918658
chr143349768033497730E06919175
chr143349881433499089E06920309
chr143349913933499346E06920634
chr143349939533500258E06920890
chr143350463333505195E06926128
chr143350863833508949E06930133
chr143345395033454442E070-24063
chr143345590333456463E070-22042
chr143345646433456644E070-21861
chr143346098833461250E070-17255
chr143347490033474950E070-3555
chr143347513433475184E070-3321
chr143347537433475424E070-3081
chr143347548933475556E070-2949
chr143347566433475745E070-2760
chr143348845933488513E0709954
chr143348864333488693E07010138
chr143348884733488897E07010342
chr143348896633489040E07010461
chr143349602333496142E07017518
chr143349618433496644E07017679
chr143349818333498237E07019678
chr143349881433499089E07020309
chr143349913933499346E07020634
chr143349939533500258E07020890
chr143350113033501203E07022625
chr143350463333505195E07026128
chr143350863833508949E07030133
chr143343836133438415E071-40090
chr143344457433444637E071-33868
chr143344521633445259E071-33246
chr143344530133445376E071-33129
chr143345347233453785E071-24720
chr143345395033454442E071-24063
chr143345502633455513E071-22992
chr143345558533455804E071-22701
chr143345590333456463E071-22042
chr143345646433456644E071-21861
chr143345777433457852E071-20653
chr143345811033458211E071-20294
chr143345827133458362E071-20143
chr143346037633460426E071-18079
chr143346098833461250E071-17255
chr143349577933495858E07117274
chr143349602333496142E07117518
chr143349618433496644E07117679
chr143349676033497108E07118255
chr143349716333497247E07118658
chr143349818333498237E07119678
chr143349881433499089E07120309
chr143349913933499346E07120634
chr143349939533500258E07120890
chr143350463333505195E07126128
chr143350863833508949E07130133
chr143351147233511522E07132967
chr143351181333512002E07133308
chr143352676333526822E07148258
chr143352697633527080E07148471
chr143352738833527453E07148883
chr143343786733437909E072-40596
chr143343836133438415E072-40090
chr143344521633445259E072-33246
chr143344530133445376E072-33129
chr143345395033454442E072-24063
chr143345502633455513E072-22992
chr143345558533455804E072-22701
chr143345646433456644E072-21861
chr143346098833461250E072-17255
chr143348864333488693E07210138
chr143348884733488897E07210342
chr143348896633489040E07210461
chr143349566433495742E07217159
chr143349577933495858E07217274
chr143349602333496142E07217518
chr143349618433496644E07217679
chr143349676033497108E07218255
chr143349716333497247E07218658
chr143349939533500258E07220890
chr143350863833508949E07230133
chr143350983833509878E07231333
chr143352833333528373E07249828
chr143344521633445259E073-33246
chr143344530133445376E073-33129
chr143345502633455513E073-22992
chr143345558533455804E073-22701
chr143349577933495858E07317274
chr143349602333496142E07317518
chr143349618433496644E07317679
chr143349676033497108E07318255
chr143349716333497247E07318658
chr143350863833508949E07330133
chr143343786733437909E074-40596
chr143343836133438415E074-40090
chr143344181233441886E074-36619
chr143344521633445259E074-33246
chr143344530133445376E074-33129
chr143345101833451112E074-27393
chr143345347233453785E074-24720
chr143345395033454442E074-24063
chr143345502633455513E074-22992
chr143345558533455804E074-22701
chr143345590333456463E074-22042
chr143345646433456644E074-21861
chr143345681133456866E074-21639
chr143345691133456965E074-21540
chr143345811033458211E074-20294
chr143345827133458362E074-20143
chr143346098833461250E074-17255
chr143346167033461721E074-16784
chr143346773433467973E074-10532
chr143346924733469297E074-9208
chr143347093733470977E074-7528
chr143347537433475424E074-3081
chr143347548933475556E074-2949
chr143347974833479990E0741243
chr143348055533480595E0742050
chr143348120733481301E0742702
chr143348748433487524E0748979
chr143348845933488513E0749954
chr143348864333488693E07410138
chr143348884733488897E07410342
chr143348896633489040E07410461
chr143349566433495742E07417159
chr143349577933495858E07417274
chr143349602333496142E07417518
chr143349618433496644E07417679
chr143349676033497108E07418255
chr143349716333497247E07418658
chr143349913933499346E07420634
chr143349939533500258E07420890
chr143350113033501203E07422625
chr143350176333501912E07423258
chr143350463333505195E07426128
chr143350617633506226E07427671
chr143350863833508949E07430133
chr143351112533511168E07432620
chr143344992733450078E081-28427
chr143345018633450866E081-27639
chr143345558533455804E081-22701
chr143345590333456463E081-22042
chr143349602333496142E08117518
chr143349618433496644E08117679
chr143349939533500258E08120890
chr143350463333505195E08126128
chr143345502633455513E082-22992
chr143345558533455804E082-22701
chr143348845933488513E0829954
chr143348864333488693E08210138
chr143348884733488897E08210342
chr143348896633489040E08210461