rs330630

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0237 (7088/29904,GnomAD)
C=0223 (6495/29118,TOPMED)
C=0304 (1520/5008,1000G)
C=0207 (798/3854,ALSPAC)
C=0206 (762/3708,TWINSUK)
chr2:150092189 (GRCh38.p7) (2q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.150092189T>C
GRCh37.p13 chr 2NC_000002.11:g.150948703T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.795C=0.205
1000GenomesAmericanSub694T=0.630C=0.370
1000GenomesEast AsianSub1008T=0.475C=0.525
1000GenomesEuropeSub1006T=0.827C=0.173
1000GenomesGlobalStudy-wide5008T=0.696C=0.304
1000GenomesSouth AsianSub978T=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.793C=0.207
The Genome Aggregation DatabaseAfricanSub8708T=0.784C=0.216
The Genome Aggregation DatabaseAmericanSub838T=0.650C=0.350
The Genome Aggregation DatabaseEast AsianSub1610T=0.455C=0.545
The Genome Aggregation DatabaseEuropeSub18446T=0.784C=0.215
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.763C=0.237
The Genome Aggregation DatabaseOtherSub302T=0.830C=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.776C=0.223
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.794C=0.206
PMID Title Author Journal
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs3306303E-06alcohol dependence21956439

eQTL of rs330630 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 rs330630 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 )
chr2150916926150917246E067-31457
chr2150917292150917501E067-31202
chr2150917505150917591E067-31112
chr2150916611150916865E068-31838
chr2150916926150917246E068-31457
chr2150917292150917501E068-31202
chr2150916926150917246E069-31457
chr2150917292150917501E069-31202
chr2150917505150917591E069-31112
chr2150899026150899136E070-49567
chr2150899200150899335E070-49368
chr2150902709150902804E070-45899
chr2150902812150903040E070-45663
chr2150903874150904047E070-44656
chr2150904184150904259E070-44444
chr2150904421150904616E070-44087
chr2150916611150916865E070-31838
chr2150916926150917246E070-31457
chr2150917292150917501E070-31202
chr2150917505150917591E070-31112
chr2150919020150921332E070-27371
chr2150948423150948489E070-214
chr2150948516150948750E0700
chr2150948919150949005E070216
chr2150954292150954406E0705589
chr2150954429150955033E0705726
chr2150955118150955168E0706415
chr2150976539150976612E07027836
chr2150977815150977899E07029112
chr2150916926150917246E071-31457
chr2150917292150917501E071-31202
chr2150976539150976612E07227836
chr2150916926150917246E073-31457
chr2150917292150917501E073-31202
chr2150916926150917246E074-31457
chr2150917292150917501E074-31202
chr2150902812150903040E081-45663
chr2150903300150903377E081-45326
chr2150903495150903621E081-45082
chr2150919020150921332E081-27371
chr2150976539150976612E08127836
chr2150976879150977150E08128176
chr2150977164150977319E08128461
chr2150977368150977518E08128665
chr2150996851150997146E08148148
chr2150997334150997385E08148631
chr2150919020150921332E082-27371
chr2150922173150922307E082-26396
chr2150997334150997385E08248631
chr2150997631150998550E08248928