rs7079620

Homo sapiens
G>A
SVIL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0424 (12695/29898,GnomAD)
A=0445 (12959/29118,TOPMED)
A=0445 (2231/5008,1000G)
A=0398 (1533/3854,ALSPAC)
A=0393 (1456/3708,TWINSUK)
chr10:29583020 (GRCh38.p7) (10p11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.29583020G>A
GRCh37.p13 chr 10NC_000010.10:g.29871949G>A
SVIL RefSeqGeneNG_033998.1:g.157782C>T

Gene: SVIL, supervillin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SVIL transcript variant 3NM_001323599.1:c.N/AIntron Variant
SVIL transcript variant 4NM_001323600.1:c.N/AIntron Variant
SVIL transcript variant 1NM_003174.3:c.N/AIntron Variant
SVIL transcript variant 2NM_021738.2:c.N/AIntron Variant
SVIL transcript variant X8XM_005252570.2:c.N/AIntron Variant
SVIL transcript variant X8XM_005252571.3:c.N/AIntron Variant
SVIL transcript variant X11XM_005252573.2:c.N/AIntron Variant
SVIL transcript variant X2XM_011519630.2:c.N/AIntron Variant
SVIL transcript variant X4XM_011519631.2:c.N/AIntron Variant
SVIL transcript variant X6XM_011519632.2:c.N/AIntron Variant
SVIL transcript variant X7XM_011519633.2:c.N/AIntron Variant
SVIL transcript variant X9XM_011519634.1:c.N/AIntron Variant
SVIL transcript variant X12XM_011519635.1:c.N/AIntron Variant
SVIL transcript variant X13XM_011519636.2:c.N/AIntron Variant
SVIL transcript variant X17XM_011519637.2:c.N/AIntron Variant
SVIL transcript variant X18XM_011519638.2:c.N/AIntron Variant
SVIL transcript variant X1XM_017016575.1:c.N/AIntron Variant
SVIL transcript variant X3XM_017016576.1:c.N/AIntron Variant
SVIL transcript variant X5XM_017016577.1:c.N/AIntron Variant
SVIL transcript variant X14XM_017016578.1:c.N/AIntron Variant
SVIL transcript variant X15XM_017016579.1:c.N/AIntron Variant
SVIL transcript variant X16XM_017016580.1:c.N/AIntron Variant
SVIL transcript variant X19XM_017016581.1:c.N/AIntron Variant
SVIL transcript variant X20XM_017016582.1:c.N/AIntron Variant
SVIL transcript variant X21XM_017016583.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.526A=0.474
1000GenomesAmericanSub694G=0.500A=0.500
1000GenomesEast AsianSub1008G=0.476A=0.524
1000GenomesEuropeSub1006G=0.626A=0.374
1000GenomesGlobalStudy-wide5008G=0.555A=0.445
1000GenomesSouth AsianSub978G=0.640A=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.602A=0.398
The Genome Aggregation DatabaseAfricanSub8698G=0.542A=0.458
The Genome Aggregation DatabaseAmericanSub836G=0.470A=0.530
The Genome Aggregation DatabaseEast AsianSub1614G=0.501A=0.499
The Genome Aggregation DatabaseEuropeSub18448G=0.599A=0.400
The Genome Aggregation DatabaseGlobalStudy-wide29898G=0.575A=0.424
The Genome Aggregation DatabaseOtherSub302G=0.730A=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.554A=0.445
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.607A=0.393
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
rs70796200.000986alcohol dependence21314694

eQTL of rs7079620 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 rs7079620 in Fetal Brain

Probe ID Position Gene beta p-value
cg12329853chr10:29834266SVIL|MIR604-0.03789016657080186.4726e-9

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 )
chr102988743829888528E06715489
chr102984398229845738E068-26211
chr102988743829888528E06815489
chr102982512629825228E069-46721
chr102983046029830759E069-41190
chr102988743829888528E06915489
chr102983046029830759E070-41190
chr102984398229845738E070-26211
chr102987611529876249E0704166
chr102987628129876398E0704332
chr102987655429876980E0704605
chr102987728229877350E0705333
chr102989121329891422E07019264
chr102989201329892719E07020064
chr102989272129892838E07020772
chr102989285729892897E07020908
chr102989295729893058E07021008
chr102982350929825022E071-46927
chr102983046029830759E071-41190
chr102983084429831148E071-40801
chr102983129629831464E071-40485
chr102983183929832001E071-39948
chr102983207029832168E071-39781
chr102987901329880060E0717064
chr102988743829888528E07115489
chr102983046029830759E072-41190
chr102988743829888528E07215489
chr102982350929825022E073-46927
chr102988743829888528E07315489
chr102982350929825022E074-46927
chr102982512629825228E074-46721
chr102984398229845738E074-26211
chr102988743829888528E07415489
chr102983046029830759E081-41190
chr102983084429831148E081-40801
chr102987422729874894E0812278
chr102987739529878699E0815446
chr102987901329880060E0817064
chr102988743829888528E08115489
chr102989201329892719E08120064
chr102989272129892838E08120772
chr102983046029830759E082-41190
chr102988743829888528E08215489
chr102989201329892719E08220064
chr102990417629904291E08232227
chr102990430929904569E08232360
chr102990466429904714E08232715
chr102990477929904829E08232830