rs10507519

Homo sapiens
C>T
ENOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0092 (2780/29978,GnomAD)
T=0087 (2532/29116,TOPMED)
T=0056 (282/5008,1000G)
T=0127 (490/3854,ALSPAC)
T=0135 (501/3708,TWINSUK)
chr13:43240987 (GRCh38.p7) (13q14.11)
AD
GWASdb2
1   publication(s)
See rs on genome
171 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.43240987C>T
GRCh37.p13 chr 13NC_000013.10:g.43815123C>T

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
1000GenomesAfricanSub1322C=0.953T=0.047
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.883T=0.117
1000GenomesGlobalStudy-wide5008C=0.944T=0.056
1000GenomesSouth AsianSub978C=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.873T=0.127
The Genome Aggregation DatabaseAfricanSub8724C=0.938T=0.062
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1620C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18494C=0.886T=0.113
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.907T=0.092
The Genome Aggregation DatabaseOtherSub302C=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.913T=0.087
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.865T=0.135
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
rs105075190.00039alcohol dependence20201924

eQTL of rs10507519 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 rs10507519 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 )
chr134379651243796745E067-18378
chr134379680843797017E067-18106
chr134380802643808096E067-7027
chr134381168643811798E067-3325
chr134382681143826861E06711688
chr134384505543845156E06729932
chr134384516943845360E06730046
chr134384544743845497E06730324
chr134384550743845561E06730384
chr134384505543845156E06829932
chr134384914243849645E06834019
chr134379651243796745E069-18378
chr134379680843797017E069-18106
chr134379725243797322E069-17801
chr134379735643797413E069-17710
chr134379759643797703E069-17420
chr134379806743798197E069-16926
chr134385999943860601E06944876
chr134376785343767903E070-47220
chr134376795143768235E070-46888
chr134376824543768370E070-46753
chr134376841743768500E070-46623
chr134376852243768572E070-46551
chr134376867843768722E070-46401
chr134376882243769202E070-45921
chr134376938743769476E070-45647
chr134376959743769687E070-45436
chr134376973143769833E070-45290
chr134378104543781266E070-33857
chr134378153843781596E070-33527
chr134378171443782040E070-33083
chr134378204843782153E070-32970
chr134378228143782530E070-32593
chr134378283043782880E070-32243
chr134378292843782978E070-32145
chr134379589143796059E070-19064
chr134379651243796745E070-18378
chr134379680843797017E070-18106
chr134379725243797322E070-17801
chr134379735643797413E070-17710
chr134379759643797703E070-17420
chr134379806743798197E070-16926
chr134379851843798584E070-16539
chr134379882643798880E070-16243
chr134382616943826419E07011046
chr134382647743826579E07011354
chr134382667843826743E07011555
chr134382681143826861E07011688
chr134382690743827026E07011784
chr134382711243827402E07011989
chr134382757343827623E07012450
chr134383708843837148E07021965
chr134383724543837505E07022122
chr134383795343838057E07022830
chr134383817843838534E07023055
chr134383860743838828E07023484
chr134383908743839293E07023964
chr134383935143839421E07024228
chr134383944643839562E07024323
chr134383991343839965E07024790
chr134384021543840458E07025092
chr134384061143840711E07025488
chr134384197243842093E07026849
chr134384285943844859E07027736
chr134384505543845156E07029932
chr134384516943845360E07030046
chr134384544743845497E07030324
chr134384550743845561E07030384
chr134384721243847478E07032089
chr134384755043847753E07032427
chr134384914243849645E07034019
chr134385228143852578E07037158
chr134385956043859732E07044437
chr134385979943859910E07044676
chr134385999943860601E07044876
chr134386082443861519E07045701
chr134379651243796745E071-18378
chr134384505543845156E07129932
chr134384516943845360E07130046
chr134384544743845497E07130324
chr134384550743845561E07130384
chr134385999943860601E07144876
chr134384505543845156E07229932
chr134384516943845360E07230046
chr134384645943846513E07331336
chr134379651243796745E074-18378
chr134379680843797017E074-18106
chr134379725243797322E074-17801
chr134379735643797413E074-17710
chr134382616943826419E07411046
chr134382647743826579E07411354
chr134385999943860601E07444876
chr134376785343767903E081-47220
chr134376795143768235E081-46888
chr134376824543768370E081-46753
chr134376841743768500E081-46623
chr134376852243768572E081-46551
chr134376867843768722E081-46401
chr134376882243769202E081-45921
chr134376938743769476E081-45647
chr134376959743769687E081-45436
chr134376973143769833E081-45290
chr134376984443769916E081-45207
chr134376994643770066E081-45057
chr134377008543771553E081-43570
chr134377162643771724E081-43399
chr134377182843771882E081-43241
chr134377196643772016E081-43107
chr134378104543781266E081-33857
chr134378153843781596E081-33527
chr134378171443782040E081-33083
chr134378204843782153E081-32970
chr134378228143782530E081-32593
chr134378775243787986E081-27137
chr134378816143788212E081-26911
chr134379651243796745E081-18378
chr134381168643811798E081-3325
chr134382592743825995E08110804
chr134382616943826419E08111046
chr134382647743826579E08111354
chr134382667843826743E08111555
chr134382681143826861E08111688
chr134382690743827026E08111784
chr134382711243827402E08111989
chr134382757343827623E08112450
chr134383908743839293E08123964
chr134383935143839421E08124228
chr134383944643839562E08124323
chr134383991343839965E08124790
chr134384021543840458E08125092
chr134384061143840711E08125488
chr134384109543841503E08125972
chr134384155743841898E08126434
chr134384197243842093E08126849
chr134384285943844859E08127736
chr134384505543845156E08129932
chr134384516943845360E08130046
chr134384544743845497E08130324
chr134384550743845561E08130384
chr134384914243849645E08134019
chr134385032443850374E08135201
chr134385062443850751E08135501
chr134385104643851096E08135923
chr134385111743851167E08135994
chr134385130443851354E08136181
chr134385150243851555E08136379
chr134385157843851628E08136455
chr134385228143852578E08137158
chr134385999943860601E08144876
chr134376785343767903E082-47220
chr134376795143768235E082-46888
chr134376824543768370E082-46753
chr134376841743768500E082-46623
chr134376852243768572E082-46551
chr134376867843768722E082-46401
chr134376938743769476E082-45647
chr134376959743769687E082-45436
chr134376973143769833E082-45290
chr134376984443769916E082-45207
chr134376994643770066E082-45057
chr134377008543771553E082-43570
chr134377162643771724E082-43399
chr134377182843771882E082-43241
chr134377196643772016E082-43107
chr134378153843781596E082-33527
chr134382592743825995E08210804
chr134382647743826579E08211354
chr134384109543841503E08225972
chr134384155743841898E08226434
chr134384197243842093E08226849
chr134384285943844859E08227736