rs2272432

Homo sapiens
G>T
REPS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0077 (2324/29964,GnomAD)
T=0094 (2755/29118,TOPMED)
T=0123 (616/5008,1000G)
T=0016 (63/3854,ALSPAC)
T=0018 (66/3708,TWINSUK)
chr6:138917462 (GRCh38.p7) (6q24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
60 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.138917462G>T
GRCh37.p13 chr 6NC_000006.11:g.139238599G>T
REPS1 RefSeqGeneNG_034016.1:g.75800C>A

Gene: REPS1, RALBP1 associated Eps domain containing 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
REPS1 transcript variant 2NM_001128617.2:c.N/AIntron Variant
REPS1 transcript variant 3NM_001286611.1:c.N/AIntron Variant
REPS1 transcript variant 4NM_001286612.1:c.N/AIntron Variant
REPS1 transcript variant 1NM_031922.4:c.N/AIntron Variant
REPS1 transcript variant X1XM_005267177.3:c.N/AIntron Variant
REPS1 transcript variant X3XM_005267178.4:c.N/AIntron Variant
REPS1 transcript variant X4XM_005267179.3:c.N/AIntron Variant
REPS1 transcript variant X5XM_011536202.2:c.N/AIntron Variant
REPS1 transcript variant X2XM_017011387.1:c.N/AIntron Variant
REPS1 transcript variant X6XM_017011388.1:c.N/AIntron Variant
REPS1 transcript variant X7XM_017011389.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.774T=0.226
1000GenomesAmericanSub694G=0.970T=0.030
1000GenomesEast AsianSub1008G=0.781T=0.219
1000GenomesEuropeSub1006G=0.979T=0.021
1000GenomesGlobalStudy-wide5008G=0.877T=0.123
1000GenomesSouth AsianSub978G=0.950T=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.984T=0.016
The Genome Aggregation DatabaseAfricanSub8722G=0.827T=0.173
The Genome Aggregation DatabaseAmericanSub838G=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1612G=0.816T=0.184
The Genome Aggregation DatabaseEuropeSub18490G=0.973T=0.026
The Genome Aggregation DatabaseGlobalStudy-wide29964G=0.922T=0.077
The Genome Aggregation DatabaseOtherSub302G=0.960T=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.905T=0.094
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.982T=0.018
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
rs22724320.000272alcohol dependence21314694

eQTL of rs2272432 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 rs2272432 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 )
chr6139265366139265460E06726767
chr6139265636139265853E06727037
chr6139269622139270439E06731023
chr6139279759139279815E06741160
chr6139279979139280023E06741380
chr6139280308139280557E06741709
chr6139280740139281263E06742141
chr6139284833139284897E06746234
chr6139284946139285023E06746347
chr6139285060139285110E06746461
chr6139285157139285239E06746558
chr6139285318139285369E06746719
chr6139265297139265355E06826698
chr6139265366139265460E06826767
chr6139265636139265853E06827037
chr6139270606139270656E06832007
chr6139270657139270717E06832058
chr6139278572139279371E06839973
chr6139279620139279670E06841021
chr6139279759139279815E06841160
chr6139279979139280023E06841380
chr6139280308139280557E06841709
chr6139279759139279815E06941160
chr6139279979139280023E06941380
chr6139280308139280557E06941709
chr6139280740139281263E06942141
chr6139193583139193635E070-44964
chr6139194047139194183E070-44416
chr6139278572139279371E07139973
chr6139280308139280557E07141709
chr6139284946139285023E07146347
chr6139285060139285110E07146461
chr6139285157139285239E07146558
chr6139285318139285369E07146719
chr6139270606139270656E07232007
chr6139270657139270717E07232058
chr6139279620139279670E07241021
chr6139279759139279815E07241160
chr6139279979139280023E07241380
chr6139280308139280557E07241709
chr6139280740139281263E07242141
chr6139284400139284544E07245801
chr6139284833139284897E07246234
chr6139284946139285023E07246347
chr6139285060139285110E07246461
chr6139279381139279547E07340782
chr6139279620139279670E07341021
chr6139279759139279815E07341160
chr6139279979139280023E07341380
chr6139280308139280557E07341709
chr6139269622139270439E07431023
chr6139279979139280023E07441380
chr6139280308139280557E07441709
chr6139284400139284544E07445801
chr6139284946139285023E07446347
chr6139285060139285110E07446461
chr6139285157139285239E07446558
chr6139285318139285369E07446719
chr6139270947139271114E08132348
chr6139271128139271178E08132529