rs583058

Homo sapiens
T>C
NENF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0434 (12978/29896,GnomAD)
C=0463 (13483/29116,TOPMED)
C=0474 (2373/5008,1000G)
C=0410 (1582/3854,ALSPAC)
C=0425 (1575/3708,TWINSUK)
chr1:212437413 (GRCh38.p7) (1q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.212437413T>C
GRCh37.p13 chr 1NC_000001.10:g.212610755T>C

Gene: NENF, neudesin neurotrophic factor(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NENF transcript variant 1NM_013349.4:c.N/AIntron Variant
NENF transcript variant 2NR_026598.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.505C=0.495
1000GenomesAmericanSub694T=0.440C=0.560
1000GenomesEast AsianSub1008T=0.323C=0.677
1000GenomesEuropeSub1006T=0.619C=0.381
1000GenomesGlobalStudy-wide5008T=0.526C=0.474
1000GenomesSouth AsianSub978T=0.730C=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.590C=0.410
The Genome Aggregation DatabaseAfricanSub8680T=0.496C=0.504
The Genome Aggregation DatabaseAmericanSub838T=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1620T=0.278C=0.722
The Genome Aggregation DatabaseEuropeSub18456T=0.631C=0.368
The Genome Aggregation DatabaseGlobalStudy-wide29896T=0.565C=0.434
The Genome Aggregation DatabaseOtherSub302T=0.560C=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.536C=0.463
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.575C=0.425
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs5830580.0000142alcohol dependence23089632
rs5830580.000944alcohol dependence23089632

eQTL of rs583058 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 rs583058 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 )
chr1212585838212585911E067-24844
chr1212586277212586356E067-24399
chr1212586550212586640E067-24115
chr1212589400212589501E067-21254
chr1212589852212589937E067-20818
chr1212590008212590058E067-20697
chr1212590608212590730E067-20025
chr1212598790212598900E067-11855
chr1212603792212604098E067-6657
chr1212610759212610817E0674
chr1212610857212611007E067102
chr1212613925212614122E0673170
chr1212614181212614231E0673426
chr1212623785212624377E06713030
chr1212624418212624619E06713663
chr1212624742212624786E06713987
chr1212624945212625001E06714190
chr1212626030212626100E06715275
chr1212626181212626678E06715426
chr1212629021212629061E06718266
chr1212629134212629795E06718379
chr1212629847212630004E06719092
chr1212630469212630519E06719714
chr1212630580212630642E06719825
chr1212631674212631724E06720919
chr1212632275212632399E06721520
chr1212632618212632748E06721863
chr1212632856212633543E06722101
chr1212635446212635501E06724691
chr1212641105212641501E06730350
chr1212641537212641766E06730782
chr1212643169212643907E06732414
chr1212643984212644072E06733229
chr1212644131212644215E06733376
chr1212585838212585911E068-24844
chr1212586277212586356E068-24399
chr1212589400212589501E068-21254
chr1212589852212589937E068-20818
chr1212590008212590058E068-20697
chr1212604818212604939E068-5816
chr1212605052212605197E068-5558
chr1212610759212610817E0684
chr1212610857212611007E068102
chr1212613925212614122E0683170
chr1212614181212614231E0683426
chr1212623785212624377E06813030
chr1212624418212624619E06813663
chr1212624742212624786E06813987
chr1212624945212625001E06814190
chr1212625293212625337E06814538
chr1212625385212625456E06814630
chr1212626030212626100E06815275
chr1212626181212626678E06815426
chr1212629021212629061E06818266
chr1212629134212629795E06818379
chr1212629847212630004E06819092
chr1212630469212630519E06819714
chr1212630580212630642E06819825
chr1212631144212631493E06820389
chr1212631529212631609E06820774
chr1212631674212631724E06820919
chr1212632275212632399E06821520
chr1212632856212633543E06822101
chr1212635446212635501E06824691
chr1212636724212636970E06825969
chr1212640123212641098E06829368
chr1212641105212641501E06830350
chr1212641537212641766E06830782
chr1212641832212641958E06831077
chr1212642725212642769E06831970
chr1212643169212643907E06832414
chr1212643984212644072E06833229
chr1212644131212644215E06833376
chr1212575284212575637E069-35118
chr1212575641212575812E069-34943
chr1212586277212586356E069-24399
chr1212589400212589501E069-21254
chr1212589852212589937E069-20818
chr1212590008212590058E069-20697
chr1212590608212590730E069-20025
chr1212604818212604939E069-5816
chr1212605052212605197E069-5558
chr1212610759212610817E0694
chr1212610857212611007E069102
chr1212612251212612538E0691496
chr1212613925212614122E0693170
chr1212614181212614231E0693426
chr1212623785212624377E06913030
chr1212624418212624619E06913663
chr1212624742212624786E06913987
chr1212624945212625001E06914190
chr1212625293212625337E06914538
chr1212625385212625456E06914630
chr1212626030212626100E06915275
chr1212626181212626678E06915426
chr1212627378212627428E06916623
chr1212627532212627665E06916777
chr1212629021212629061E06918266
chr1212629134212629795E06918379
chr1212629847212630004E06919092
chr1212630469212630519E06919714
chr1212630580212630642E06919825
chr1212631144212631493E06920389
chr1212632275212632399E06921520
chr1212632618212632748E06921863
chr1212632856212633543E06922101
chr1212635446212635501E06924691
chr1212636724212636970E06925969
chr1212637025212637317E06926270
chr1212640123212641098E06929368
chr1212641105212641501E06930350
chr1212641537212641766E06930782
chr1212641832212641958E06931077
chr1212642725212642769E06931970
chr1212643169212643907E06932414
chr1212643984212644072E06933229
chr1212644131212644215E06933376
chr1212650411212650881E06939656
chr1212586277212586356E070-24399
chr1212586550212586640E070-24115
chr1212623785212624377E07013030
chr1212626030212626100E07015275
chr1212626181212626678E07015426
chr1212585838212585911E071-24844
chr1212586277212586356E071-24399
chr1212589400212589501E071-21254
chr1212589852212589937E071-20818
chr1212590008212590058E071-20697
chr1212603792212604098E071-6657
chr1212604214212604297E071-6458
chr1212604425212604618E071-6137
chr1212604676212604749E071-6006
chr1212604818212604939E071-5816
chr1212613925212614122E0713170
chr1212614181212614231E0713426
chr1212623785212624377E07113030
chr1212624418212624619E07113663
chr1212624742212624786E07113987
chr1212624945212625001E07114190
chr1212625293212625337E07114538
chr1212625385212625456E07114630
chr1212626030212626100E07115275
chr1212626181212626678E07115426
chr1212627378212627428E07116623
chr1212627532212627665E07116777
chr1212629021212629061E07118266
chr1212629134212629795E07118379
chr1212629847212630004E07119092
chr1212630469212630519E07119714
chr1212630580212630642E07119825
chr1212631144212631493E07120389
chr1212631529212631609E07120774
chr1212631674212631724E07120919
chr1212632275212632399E07121520
chr1212632618212632748E07121863
chr1212632856212633543E07122101
chr1212635446212635501E07124691
chr1212636724212636970E07125969
chr1212637025212637317E07126270
chr1212640123212641098E07129368
chr1212641105212641501E07130350
chr1212641537212641766E07130782
chr1212642725212642769E07131970
chr1212643169212643907E07132414
chr1212643984212644072E07133229
chr1212644131212644215E07133376
chr1212659088212660111E07148333
chr1212586277212586356E072-24399
chr1212589400212589501E072-21254
chr1212589852212589937E072-20818
chr1212590008212590058E072-20697
chr1212590608212590730E072-20025
chr1212612251212612538E0721496
chr1212613925212614122E0723170
chr1212614181212614231E0723426
chr1212623785212624377E07213030
chr1212624418212624619E07213663
chr1212624742212624786E07213987
chr1212624945212625001E07214190
chr1212625293212625337E07214538
chr1212625385212625456E07214630
chr1212626030212626100E07215275
chr1212626181212626678E07215426
chr1212629021212629061E07218266
chr1212629134212629795E07218379
chr1212629847212630004E07219092
chr1212630469212630519E07219714
chr1212630580212630642E07219825
chr1212632856212633543E07222101
chr1212635446212635501E07224691
chr1212636724212636970E07225969
chr1212640123212641098E07229368
chr1212641105212641501E07230350
chr1212641537212641766E07230782
chr1212643169212643907E07232414
chr1212643984212644072E07233229
chr1212644131212644215E07233376
chr1212645369212645419E07234614
chr1212650411212650881E07239656
chr1212651035212651637E07240280
chr1212659088212660111E07248333
chr1212660190212660240E07249435
chr1212585838212585911E073-24844
chr1212586277212586356E073-24399
chr1212589400212589501E073-21254
chr1212589852212589937E073-20818
chr1212590008212590058E073-20697
chr1212613925212614122E0733170
chr1212614181212614231E0733426
chr1212623785212624377E07313030
chr1212624418212624619E07313663
chr1212624742212624786E07313987
chr1212624945212625001E07314190
chr1212626030212626100E07315275
chr1212626181212626678E07315426
chr1212627378212627428E07316623
chr1212629021212629061E07318266
chr1212629134212629795E07318379
chr1212629847212630004E07319092
chr1212630469212630519E07319714
chr1212630580212630642E07319825
chr1212631144212631493E07320389
chr1212640123212641098E07329368
chr1212641105212641501E07330350
chr1212641537212641766E07330782
chr1212643169212643907E07332414
chr1212643984212644072E07333229
chr1212644131212644215E07333376
chr1212650411212650881E07339656
chr1212655386212655668E07344631
chr1212585838212585911E074-24844
chr1212586277212586356E074-24399
chr1212586550212586640E074-24115
chr1212589400212589501E074-21254
chr1212589852212589937E074-20818
chr1212590008212590058E074-20697
chr1212590608212590730E074-20025
chr1212613925212614122E0743170
chr1212614181212614231E0743426
chr1212615875212615995E0745120
chr1212623785212624377E07413030
chr1212624418212624619E07413663
chr1212624742212624786E07413987
chr1212624945212625001E07414190
chr1212625293212625337E07414538
chr1212625385212625456E07414630
chr1212626030212626100E07415275
chr1212626181212626678E07415426
chr1212629021212629061E07418266
chr1212629134212629795E07418379
chr1212629847212630004E07419092
chr1212630469212630519E07419714
chr1212630580212630642E07419825
chr1212631144212631493E07420389
chr1212632856212633543E07422101
chr1212635446212635501E07424691
chr1212636724212636970E07425969
chr1212640123212641098E07429368
chr1212641105212641501E07430350
chr1212641537212641766E07430782
chr1212643169212643907E07432414
chr1212643984212644072E07433229
chr1212644131212644215E07433376
chr1212645369212645419E07434614
chr1212650411212650881E07439656
chr1212651035212651637E07440280
chr1212586277212586356E081-24399
chr1212586550212586640E081-24115
chr1212624418212624619E08113663
chr1212626030212626100E08115275
chr1212626181212626678E08115426
chr1212627378212627428E08116623
chr1212629021212629061E08118266
chr1212629134212629795E08118379
chr1212629847212630004E08119092
chr1212643169212643907E08132414
chr1212626030212626100E08215275
chr1212626181212626678E08215426
chr1212629134212629795E08218379










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1212587321212589193E067-21562
chr1212605917212606595E067-4160
chr1212606606212607015E067-3740
chr1212587321212589193E068-21562
chr1212605917212606595E068-4160
chr1212606606212607015E068-3740
chr1212587321212589193E069-21562
chr1212605917212606595E069-4160
chr1212606606212607015E069-3740
chr1212605917212606595E070-4160
chr1212606606212607015E070-3740
chr1212587321212589193E071-21562
chr1212605917212606595E071-4160
chr1212606606212607015E071-3740
chr1212587321212589193E072-21562
chr1212605917212606595E072-4160
chr1212606606212607015E072-3740
chr1212587321212589193E073-21562
chr1212605917212606595E073-4160
chr1212606606212607015E073-3740
chr1212587321212589193E074-21562
chr1212605917212606595E074-4160
chr1212606606212607015E074-3740
chr1212605917212606595E081-4160
chr1212587321212589193E082-21562
chr1212605917212606595E082-4160
chr1212606606212607015E082-3740