rs4144333

Homo sapiens
A>G
RYR3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0199 (5983/29954,GnomAD)
G=0241 (7038/29118,TOPMED)
G=0247 (1239/5008,1000G)
G=0114 (439/3854,ALSPAC)
G=0122 (451/3708,TWINSUK)
chr15:33502351 (GRCh38.p7) (15q14)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.33502351A>G
GRCh37.p13 chr 15NC_000015.9:g.33794552A>G

Gene: RYR3, ryanodine receptor 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RYR3 transcript variant 1NM_001036.4:c.N/AIntron Variant
RYR3 transcript variant 2NM_001243996.2:c.N/AIntron Variant
RYR3 transcript variant X9XM_011521880.2:c.N/AIntron Variant
RYR3 transcript variant X1XM_017022468.1:c.N/AIntron Variant
RYR3 transcript variant X2XM_017022469.1:c.N/AIntron Variant
RYR3 transcript variant X3XM_017022470.1:c.N/AIntron Variant
RYR3 transcript variant X4XM_017022471.1:c.N/AIntron Variant
RYR3 transcript variant X5XM_017022472.1:c.N/AIntron Variant
RYR3 transcript variant X7XM_017022473.1:c.N/AIntron Variant
RYR3 transcript variant X8XM_017022474.1:c.N/AIntron Variant
RYR3 transcript variant X10XM_017022475.1:c.N/AIntron Variant
RYR3 transcript variant X11XM_017022476.1:c.N/AIntron Variant
RYR3 transcript variant X13XM_017022477.1:c.N/AIntron Variant
RYR3 transcript variant X12XR_001751369.1:n.N/AIntron Variant
RYR3 transcript variant X14XR_001751370.1:n.N/AIntron Variant
RYR3 transcript variant X14XR_001751371.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.596G=0.404
1000GenomesAmericanSub694A=0.880G=0.120
1000GenomesEast AsianSub1008A=0.714G=0.286
1000GenomesEuropeSub1006A=0.855G=0.145
1000GenomesGlobalStudy-wide5008A=0.753G=0.247
1000GenomesSouth AsianSub978A=0.810G=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.886G=0.114
The Genome Aggregation DatabaseAfricanSub8716A=0.633G=0.367
The Genome Aggregation DatabaseAmericanSub834A=0.880G=0.120
The Genome Aggregation DatabaseEast AsianSub1616A=0.689G=0.311
The Genome Aggregation DatabaseEuropeSub18486A=0.884G=0.115
The Genome Aggregation DatabaseGlobalStudy-wide29954A=0.800G=0.199
The Genome Aggregation DatabaseOtherSub302A=0.810G=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.758G=0.241
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.878G=0.122
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs41443331.96E-05alcohol dependence19581569

eQTL of rs4144333 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 rs4144333 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 )
chr153374585033745930E067-48622
chr153374608433746181E067-48371
chr153374634233746386E067-48166
chr153378521633785332E067-9220
chr153374608433746181E068-48371
chr153374634233746386E068-48166
chr153374657133746682E068-47870
chr153374884833748962E068-45590
chr153376070933760823E068-33729
chr153378480233784902E068-9650
chr153378495033785149E068-9403
chr153380749533807578E06812943
chr153380778133807860E06813229
chr153380816033808242E06813608
chr153381294533813036E06818393
chr153381347033813520E06818918
chr153381385333813893E06819301
chr153383627533836388E06841723
chr153384324433843331E06848692
chr153384402133844061E06849469
chr153378480233784902E069-9650
chr153378495033785149E069-9403
chr153378521633785332E069-9220
chr153379881733799051E0704265
chr153379908133799329E0704529
chr153384402133844061E07049469
chr153376070933760823E071-33729
chr153376109733761258E071-33294
chr153378480233784902E071-9650
chr153378480233784902E073-9650
chr153378495033785149E073-9403
chr153383256833832650E07338016
chr153384012233840548E07345570
chr153378495033785149E074-9403
chr153378521633785332E074-9220
chr153381022833810493E07415676
chr153381074533810855E07416193
chr153381097233811236E07416420
chr153381347033813520E07418918
chr153383256833832650E07438016
chr153376070933760823E082-33729
chr153376109733761258E082-33294
chr153378342233783628E082-10924