rs5750769

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0159 (4758/29854,GnomAD)
T=0134 (3904/29114,TOPMED)
T=0263 (1315/5008,1000G)
T=0127 (489/3854,ALSPAC)
T=0125 (462/3708,TWINSUK)
chr22:39196176 (GRCh38.p7) (22q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
165 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.39196176C>T
GRCh37.p13 chr 22NC_000022.10:g.39592181C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.884T=0.116
1000GenomesAmericanSub694C=0.750T=0.250
1000GenomesEast AsianSub1008C=0.320T=0.680
1000GenomesEuropeSub1006C=0.897T=0.103
1000GenomesGlobalStudy-wide5008C=0.737T=0.263
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.873T=0.127
The Genome Aggregation DatabaseAfricanSub8704C=0.891T=0.109
The Genome Aggregation DatabaseAmericanSub836C=0.760T=0.240
The Genome Aggregation DatabaseEast AsianSub1608C=0.372T=0.628
The Genome Aggregation DatabaseEuropeSub18404C=0.860T=0.139
The Genome Aggregation DatabaseGlobalStudy-wide29854C=0.840T=0.159
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29114C=0.865T=0.134
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.875T=0.125
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs57507690.000382alcohol dependence21314694

eQTL of rs5750769 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 rs5750769 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 )
chr223954333139543997E067-48184
chr223954401339544466E067-47715
chr223954449939545661E067-46520
chr223957994539580790E067-11391
chr223958079439580916E067-11265
chr223958092739581311E067-10870
chr223958139139582060E067-10121
chr223963097239633012E06738791
chr223963312339633293E06740942
chr223963332639634291E06741145
chr223963430539634391E06742124
chr223963450339634833E06742322
chr223964206739642178E06749886
chr223954333139543997E068-48184
chr223954401339544466E068-47715
chr223954449939545661E068-46520
chr223956905539569365E068-22816
chr223956945139572676E068-19505
chr223957994539580790E068-11391
chr223958079439580916E068-11265
chr223958092739581311E068-10870
chr223958139139582060E068-10121
chr223962964639630900E06837465
chr223963097239633012E06838791
chr223963312339633293E06840942
chr223963332639634291E06841145
chr223963430539634391E06842124
chr223963450339634833E06842322
chr223963508139635142E06842900
chr223963516739636212E06842986
chr223954333139543997E069-48184
chr223954401339544466E069-47715
chr223954449939545661E069-46520
chr223954641339546671E069-45510
chr223955680839556916E069-35265
chr223955700839557155E069-35026
chr223956905539569365E069-22816
chr223956945139572676E069-19505
chr223957994539580790E069-11391
chr223958079439580916E069-11265
chr223958092739581311E069-10870
chr223958139139582060E069-10121
chr223963097239633012E06938791
chr223963312339633293E06940942
chr223963332639634291E06941145
chr223963430539634391E06942124
chr223963450339634833E06942322
chr223963508139635142E06942900
chr223963516739636212E06942986
chr223963628439636345E06944103
chr223963639439636506E06944213
chr223954570939546383E070-45798
chr223954641339546671E070-45510
chr223954677439546816E070-45365
chr223956945139572676E070-19505
chr223963097239633012E07038791
chr223963312339633293E07040942
chr223963332639634291E07041145
chr223963430539634391E07042124
chr223963450339634833E07042322
chr223963508139635142E07042900
chr223963516739636212E07042986
chr223963628439636345E07044103
chr223963639439636506E07044213
chr223954333139543997E071-48184
chr223954401339544466E071-47715
chr223954449939545661E071-46520
chr223954570939546383E071-45798
chr223954641339546671E071-45510
chr223955680839556916E071-35265
chr223955700839557155E071-35026
chr223956586839566501E071-25680
chr223956661239566697E071-25484
chr223956945139572676E071-19505
chr223957994539580790E071-11391
chr223958079439580916E071-11265
chr223958092739581311E071-10870
chr223958139139582060E071-10121
chr223962964639630900E07137465
chr223963097239633012E07138791
chr223963312339633293E07140942
chr223963332639634291E07141145
chr223963430539634391E07142124
chr223963450339634833E07142322
chr223963508139635142E07142900
chr223963516739636212E07142986
chr223963628439636345E07144103
chr223963639439636506E07144213
chr223954333139543997E072-48184
chr223954401339544466E072-47715
chr223954570939546383E072-45798
chr223956945139572676E072-19505
chr223957994539580790E072-11391
chr223958079439580916E072-11265
chr223958092739581311E072-10870
chr223962964639630900E07237465
chr223963332639634291E07241145
chr223963430539634391E07242124
chr223963450339634833E07242322
chr223963508139635142E07242900
chr223963516739636212E07242986
chr223963628439636345E07244103
chr223963639439636506E07244213
chr223964206739642178E07249886
chr223954333139543997E073-48184
chr223954401339544466E073-47715
chr223954998839550127E073-42054
chr223956894239569006E073-23175
chr223956905539569365E073-22816
chr223956945139572676E073-19505
chr223957994539580790E073-11391
chr223958079439580916E073-11265
chr223958092739581311E073-10870
chr223962940639629633E07337225
chr223962964639630900E07337465
chr223963097239633012E07338791
chr223963312339633293E07340942
chr223963332639634291E07341145
chr223963430539634391E07342124
chr223963508139635142E07342900
chr223963516739636212E07342986
chr223963628439636345E07344103
chr223963639439636506E07344213
chr223964206739642178E07349886
chr223954333139543997E074-48184
chr223954401339544466E074-47715
chr223954449939545661E074-46520
chr223954641339546671E074-45510
chr223954677439546816E074-45365
chr223956905539569365E074-22816
chr223956945139572676E074-19505
chr223957994539580790E074-11391
chr223958079439580916E074-11265
chr223958092739581311E074-10870
chr223962964639630900E07437465
chr223963312339633293E07440942
chr223963332639634291E07441145
chr223957522139576260E081-15921
chr223957626139576339E081-15842
chr223957665439576717E081-15464
chr223957674539577196E081-14985
chr223957726739577317E081-14864
chr223957740239577478E081-14703
chr223957756739577617E081-14564
chr223959908739599287E0816906
chr223959934239599503E0817161
chr223961899639619073E08126815
chr223961929939619727E08127118
chr223961979839619888E08127617
chr223961995939620046E08127778
chr223962006839620145E08127887
chr223963516739636212E08142986
chr223963628439636345E08144103
chr223963639439636506E08144213
chr223957626139576339E082-15842
chr223957665439576717E082-15464
chr223957674539577196E082-14985
chr223957726739577317E082-14864
chr223957740239577478E082-14703
chr223957756739577617E082-14564
chr223961899639619073E08226815
chr223961929939619727E08227118
chr223961979839619888E08227617
chr223961995939620046E08227778
chr223962006839620145E08227887










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr223954682439549944E067-42237
chr223963855139640093E06746370
chr223964014539642032E06747964
chr223954682439549944E068-42237
chr223963855139640093E06846370
chr223964014539642032E06847964
chr223954682439549944E069-42237
chr223963855139640093E06946370
chr223964014539642032E06947964
chr223954682439549944E070-42237
chr223964014539642032E07047964
chr223954682439549944E071-42237
chr223964014539642032E07147964
chr223954682439549944E072-42237
chr223963855139640093E07246370
chr223964014539642032E07247964
chr223954682439549944E073-42237
chr223963855139640093E07346370
chr223964014539642032E07347964
chr223954682439549944E074-42237
chr223963855139640093E07446370
chr223964014539642032E07447964
chr223954682439549944E082-42237
chr223963855139640093E08246370
chr223964014539642032E08247964