rs7058279

Homo sapiens
T>C
REPS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0009 (208/20952,GnomAD)
C=0011 (42/3775,1000G)
chrX:17062593 (GRCh38.p7) (Xp22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
135 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.17062593T>C
GRCh37.p13 chr XNC_000023.10:g.17080716T>C
REPS2 RefSeqGeneNG_012557.1:g.120903T>C

Gene: REPS2, RALBP1 associated Eps domain containing 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
REPS2 transcript variant 2NM_001080975.1:c.N/AIntron Variant
REPS2 transcript variant 1NM_004726.2:c.N/AIntron Variant
REPS2 transcript variant X10XM_005274625.3:c.N/AIntron Variant
REPS2 transcript variant X11XM_005274626.3:c.N/AIntron Variant
REPS2 transcript variant X1XM_011545603.2:c.N/AIntron Variant
REPS2 transcript variant X2XM_011545604.2:c.N/AIntron Variant
REPS2 transcript variant X3XM_011545605.2:c.N/AIntron Variant
REPS2 transcript variant X8XM_011545606.2:c.N/AIntron Variant
REPS2 transcript variant X13XM_011545607.2:c.N/AIntron Variant
REPS2 transcript variant X14XM_011545609.2:c.N/AIntron Variant
REPS2 transcript variant X4XM_017029955.1:c.N/AIntron Variant
REPS2 transcript variant X5XM_017029956.1:c.N/AIntron Variant
REPS2 transcript variant X6XM_017029957.1:c.N/AIntron Variant
REPS2 transcript variant X12XM_017029958.1:c.N/AIntron Variant
REPS2 transcript variant X15XR_001755742.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003T=0.960C=0.040
1000GenomesAmericanSub524T=1.000C=0.000
1000GenomesEast AsianSub764T=1.000C=0.000
1000GenomesEuropeSub766T=1.000C=0.000
1000GenomesGlobalStudy-wide3775T=0.989C=0.011
1000GenomesSouth AsianSub718T=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub5910T=0.966C=0.034
The Genome Aggregation DatabaseAmericanSub608T=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1022T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub13224T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide20952T=0.990C=0.009
The Genome Aggregation DatabaseOtherSub188T=1.000C=0.000
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
rs70582790.000374alcohol dependence20201924

eQTL of rs7058279 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 rs7058279 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 )
chrX1703114017031245E067-49471
chrX1703130317031439E067-49277
chrX1703156217031692E067-49024
chrX1703862717038754E067-41962
chrX1704599317046046E067-34670
chrX1704615717046265E067-34451
chrX1704632417046374E067-34342
chrX1704838117048524E067-32192
chrX1704882817049017E067-31699
chrX1704908117049286E067-31430
chrX1704934117049402E067-31314
chrX1705008417050230E067-30486
chrX1705028917050431E067-30285
chrX1705051817050828E067-29888
chrX1705085117050929E067-29787
chrX1705099017051034E067-29682
chrX1705113817051245E067-29471
chrX1705128217051365E067-29351
chrX1705137517051425E067-29291
chrX1705149817051631E067-29085
chrX1705164017051694E067-29022
chrX1705620217056281E067-24435
chrX1705654717057490E067-23226
chrX1708577417085998E0675058
chrX1709147617091553E06710760
chrX1709966917100009E06718953
chrX1710021617100398E06719500
chrX1703845117038527E068-42189
chrX1703862717038754E068-41962
chrX1703887517038980E068-41736
chrX1703901017039438E068-41278
chrX1703961017039815E068-40901
chrX1704734417047409E068-33307
chrX1704838117048524E068-32192
chrX1705620217056281E068-24435
chrX1705654717057490E068-23226
chrX1703862717038754E069-41962
chrX1703887517038980E069-41736
chrX1703901017039438E069-41278
chrX1703961017039815E069-40901
chrX1704301717043383E069-37333
chrX1704363917043740E069-36976
chrX1704382717044015E069-36701
chrX1704414517044343E069-36373
chrX1704599317046046E069-34670
chrX1704615717046265E069-34451
chrX1704632417046374E069-34342
chrX1704734417047409E069-33307
chrX1704838117048524E069-32192
chrX1704882817049017E069-31699
chrX1705085117050929E069-29787
chrX1705099017051034E069-29682
chrX1705113817051245E069-29471
chrX1705128217051365E069-29351
chrX1705137517051425E069-29291
chrX1705149817051631E069-29085
chrX1705164017051694E069-29022
chrX1705654717057490E069-23226
chrX1706046417060514E069-20202
chrX1706064517060701E069-20015
chrX1706457117065016E069-15700
chrX1707032617070695E069-10021
chrX1709102317091154E06910307
chrX1703845117038527E070-42189
chrX1703961017039815E070-40901
chrX1704012817040203E070-40513
chrX1704414517044343E071-36373
chrX1704838117048524E071-32192
chrX1704882817049017E071-31699
chrX1704908117049286E071-31430
chrX1704934117049402E071-31314
chrX1705620217056281E071-24435
chrX1705654717057490E071-23226
chrX1705994617060053E071-20663
chrX1706009017060174E071-20542
chrX1706023917060367E071-20349
chrX1706046417060514E071-20202
chrX1707168317071965E071-8751
chrX1703845117038527E072-42189
chrX1703862717038754E072-41962
chrX1703887517038980E072-41736
chrX1703901017039438E072-41278
chrX1703961017039815E072-40901
chrX1704301717043383E072-37333
chrX1704615717046265E072-34451
chrX1704632417046374E072-34342
chrX1704660117046759E072-33957
chrX1704681117046895E072-33821
chrX1705008417050230E072-30486
chrX1705028917050431E072-30285
chrX1705051817050828E072-29888
chrX1705085117050929E072-29787
chrX1705099017051034E072-29682
chrX1705113817051245E072-29471
chrX1705128217051365E072-29351
chrX1705137517051425E072-29291
chrX1705149817051631E072-29085
chrX1705164017051694E072-29022
chrX1705620217056281E072-24435
chrX1705654717057490E072-23226
chrX1707032617070695E072-10021
chrX1707107217071220E072-9496
chrX1707168317071965E072-8751
chrX1709966917100009E07218953
chrX1710021617100398E07219500
chrX1703862717038754E073-41962
chrX1705051817050828E073-29888
chrX1705085117050929E073-29787
chrX1705099017051034E073-29682
chrX1705113817051245E073-29471
chrX1705128217051365E073-29351
chrX1705137517051425E073-29291
chrX1705149817051631E073-29085
chrX1705620217056281E073-24435
chrX1705654717057490E073-23226
chrX1705797417058046E073-22670
chrX1703114017031245E074-49471
chrX1703130317031439E074-49277
chrX1704615717046265E074-34451
chrX1704632417046374E074-34342
chrX1704660117046759E074-33957
chrX1704681117046895E074-33821
chrX1704838117048524E074-32192
chrX1704882817049017E074-31699
chrX1704934117049402E074-31314
chrX1705051817050828E074-29888
chrX1705085117050929E074-29787
chrX1705099017051034E074-29682
chrX1705113817051245E074-29471
chrX1705128217051365E074-29351
chrX1705137517051425E074-29291
chrX1705149817051631E074-29085
chrX1705164017051694E074-29022
chrX1709905417099134E08118338
chrX1709949717099547E08118781