rs930577

Homo sapiens
G>A
ENOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0214 (6426/29932,GnomAD)
G==0235 (6866/29116,TOPMED)
G==0232 (1163/5008,1000G)
G==0162 (624/3854,ALSPAC)
G==0167 (621/3708,TWINSUK)
chr13:43232753 (GRCh38.p7) (13q14.11)
AD
GWASdb2
1   publication(s)
See rs on genome
163 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.43232753G>A
GRCh37.p13 chr 13NC_000013.10:g.43806889G>A

Gene: ENOX1, ecto-NOX disulfide-thiol exchanger 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ENOX1 transcript variant 2NM_001127615.1:c.N/AIntron Variant
ENOX1 transcript variant 3NM_001242863.1:c.N/AIntron Variant
ENOX1 transcript variant 1NM_017993.3:c.N/AIntron Variant
ENOX1 transcript variant X1XM_005266439.3:c.N/AIntron Variant
ENOX1 transcript variant X2XM_011535126.2:c.N/AIntron Variant
ENOX1 transcript variant X5XM_011535127.2:c.N/AIntron Variant
ENOX1 transcript variant X4XM_011535128.2:c.N/AIntron Variant
ENOX1 transcript variant X8XM_011535132.2:c.N/AIntron Variant
ENOX1 transcript variant X3XM_017020637.1:c.N/AIntron Variant
ENOX1 transcript variant X6XM_017020638.1:c.N/AIntron Variant
ENOX1 transcript variant X7XM_017020639.1:c.N/AIntron Variant
ENOX1 transcript variant X9XM_017020640.1:c.N/AIntron Variant
ENOX1 transcript variant X10XM_017020641.1:c.N/AGenic Downstream Transcript Variant
ENOX1 transcript variant X12XM_017020642.1:c.N/AGenic Downstream Transcript Variant
ENOX1 transcript variant X13XR_001749593.1:n.N/AIntron Variant
ENOX1 transcript variant X12XR_001749594.1:n.N/AIntron Variant
ENOX1 transcript variant X11XR_001749592.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.386A=0.614
1000GenomesAmericanSub694G=0.230A=0.770
1000GenomesEast AsianSub1008G=0.197A=0.803
1000GenomesEuropeSub1006G=0.152A=0.848
1000GenomesGlobalStudy-wide5008G=0.232A=0.768
1000GenomesSouth AsianSub978G=0.140A=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.162A=0.838
The Genome Aggregation DatabaseAfricanSub8698G=0.340A=0.660
The Genome Aggregation DatabaseAmericanSub838G=0.210A=0.790
The Genome Aggregation DatabaseEast AsianSub1618G=0.218A=0.782
The Genome Aggregation DatabaseEuropeSub18478G=0.154A=0.845
The Genome Aggregation DatabaseGlobalStudy-wide29932G=0.214A=0.785
The Genome Aggregation DatabaseOtherSub300G=0.270A=0.730
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.235A=0.764
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.167A=0.833
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs9305770.00097alcohol dependence20201924

eQTL of rs930577 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 rs930577 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 )
chr134379651243796745E067-10144
chr134379680843797017E067-9872
chr134380802643808096E0671137
chr134381168643811798E0674797
chr134382681143826861E06719922
chr134384505543845156E06738166
chr134384516943845360E06738280
chr134384544743845497E06738558
chr134384550743845561E06738618
chr134384505543845156E06838166
chr134384914243849645E06842253
chr134379651243796745E069-10144
chr134379680843797017E069-9872
chr134379725243797322E069-9567
chr134379735643797413E069-9476
chr134379759643797703E069-9186
chr134379806743798197E069-8692
chr134376785343767903E070-38986
chr134376795143768235E070-38654
chr134376824543768370E070-38519
chr134376841743768500E070-38389
chr134376852243768572E070-38317
chr134376867843768722E070-38167
chr134376882243769202E070-37687
chr134376938743769476E070-37413
chr134376959743769687E070-37202
chr134376973143769833E070-37056
chr134378104543781266E070-25623
chr134378153843781596E070-25293
chr134378171443782040E070-24849
chr134378204843782153E070-24736
chr134378228143782530E070-24359
chr134378283043782880E070-24009
chr134378292843782978E070-23911
chr134379589143796059E070-10830
chr134379651243796745E070-10144
chr134379680843797017E070-9872
chr134379725243797322E070-9567
chr134379735643797413E070-9476
chr134379759643797703E070-9186
chr134379806743798197E070-8692
chr134379851843798584E070-8305
chr134379882643798880E070-8009
chr134382616943826419E07019280
chr134382647743826579E07019588
chr134382667843826743E07019789
chr134382681143826861E07019922
chr134382690743827026E07020018
chr134382711243827402E07020223
chr134382757343827623E07020684
chr134383708843837148E07030199
chr134383724543837505E07030356
chr134383795343838057E07031064
chr134383817843838534E07031289
chr134383860743838828E07031718
chr134383908743839293E07032198
chr134383935143839421E07032462
chr134383944643839562E07032557
chr134383991343839965E07033024
chr134384021543840458E07033326
chr134384061143840711E07033722
chr134384197243842093E07035083
chr134384285943844859E07035970
chr134384505543845156E07038166
chr134384516943845360E07038280
chr134384544743845497E07038558
chr134384550743845561E07038618
chr134384721243847478E07040323
chr134384755043847753E07040661
chr134384914243849645E07042253
chr134385228143852578E07045392
chr134379651243796745E071-10144
chr134384505543845156E07138166
chr134384516943845360E07138280
chr134384544743845497E07138558
chr134384550743845561E07138618
chr134384505543845156E07238166
chr134384516943845360E07238280
chr134384645943846513E07339570
chr134379651243796745E074-10144
chr134379680843797017E074-9872
chr134379725243797322E074-9567
chr134379735643797413E074-9476
chr134382616943826419E07419280
chr134382647743826579E07419588
chr134376785343767903E081-38986
chr134376795143768235E081-38654
chr134376824543768370E081-38519
chr134376841743768500E081-38389
chr134376852243768572E081-38317
chr134376867843768722E081-38167
chr134376882243769202E081-37687
chr134376938743769476E081-37413
chr134376959743769687E081-37202
chr134376973143769833E081-37056
chr134376984443769916E081-36973
chr134376994643770066E081-36823
chr134377008543771553E081-35336
chr134377162643771724E081-35165
chr134377182843771882E081-35007
chr134377196643772016E081-34873
chr134378104543781266E081-25623
chr134378153843781596E081-25293
chr134378171443782040E081-24849
chr134378204843782153E081-24736
chr134378228143782530E081-24359
chr134378775243787986E081-18903
chr134378816143788212E081-18677
chr134379651243796745E081-10144
chr134381168643811798E0814797
chr134382592743825995E08119038
chr134382616943826419E08119280
chr134382647743826579E08119588
chr134382667843826743E08119789
chr134382681143826861E08119922
chr134382690743827026E08120018
chr134382711243827402E08120223
chr134382757343827623E08120684
chr134383908743839293E08132198
chr134383935143839421E08132462
chr134383944643839562E08132557
chr134383991343839965E08133024
chr134384021543840458E08133326
chr134384061143840711E08133722
chr134384109543841503E08134206
chr134384155743841898E08134668
chr134384197243842093E08135083
chr134384285943844859E08135970
chr134384505543845156E08138166
chr134384516943845360E08138280
chr134384544743845497E08138558
chr134384550743845561E08138618
chr134384914243849645E08142253
chr134385032443850374E08143435
chr134385062443850751E08143735
chr134385104643851096E08144157
chr134385111743851167E08144228
chr134385130443851354E08144415
chr134385150243851555E08144613
chr134385157843851628E08144689
chr134385228143852578E08145392
chr134376785343767903E082-38986
chr134376795143768235E082-38654
chr134376824543768370E082-38519
chr134376841743768500E082-38389
chr134376852243768572E082-38317
chr134376867843768722E082-38167
chr134376938743769476E082-37413
chr134376959743769687E082-37202
chr134376973143769833E082-37056
chr134376984443769916E082-36973
chr134376994643770066E082-36823
chr134377008543771553E082-35336
chr134377162643771724E082-35165
chr134377182843771882E082-35007
chr134377196643772016E082-34873
chr134378153843781596E082-25293
chr134382592743825995E08219038
chr134382647743826579E08219588
chr134384109543841503E08234206
chr134384155743841898E08234668
chr134384197243842093E08235083
chr134384285943844859E08235970