rs2676029

Homo sapiens
C>T
RYR3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0141 (4253/29962,GnomAD)
T=0173 (5041/29118,TOPMED)
T=0120 (601/5008,1000G)
T=0109 (421/3854,ALSPAC)
T=0119 (442/3708,TWINSUK)
chr15:33430601 (GRCh38.p7) (15q14)
ND
GWASdb2
1   publication(s)
See rs on genome
47 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.33430601C>T
GRCh37.p13 chr 15NC_000015.9:g.33722802C>T

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
1000GenomesAfricanSub1322C=0.744T=0.256
1000GenomesAmericanSub694C=0.920T=0.080
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.876T=0.124
1000GenomesGlobalStudy-wide5008C=0.880T=0.120
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.891T=0.109
The Genome Aggregation DatabaseAfricanSub8710C=0.750T=0.250
The Genome Aggregation DatabaseAmericanSub836C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1618C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18496C=0.894T=0.105
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.858T=0.141
The Genome Aggregation DatabaseOtherSub302C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.826T=0.173
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.881T=0.119
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs26760290.000361nicotine smoking19268276

eQTL of rs2676029 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 rs2676029 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 )
chr153374585033745930E06723048
chr153374608433746181E06723282
chr153374634233746386E06723540
chr153371647733716527E068-6275
chr153374608433746181E06823282
chr153374634233746386E06823540
chr153374657133746682E06823769
chr153374884833748962E06826046
chr153376070933760823E06837907
chr153371713333717223E069-5579
chr153368580933686354E070-36448
chr153368638133686475E070-36327
chr153368652633686619E070-36183
chr153368669633686888E070-35914
chr153368708233687197E070-35605
chr153368938833689481E070-33321
chr153368953033689580E070-33222
chr153368970933689807E070-32995
chr153369059033690737E070-32065
chr153369084433690922E070-31880
chr153371189733712482E070-10320
chr153372181933721879E070-923
chr153376070933760823E07137907
chr153376109733761258E07138295
chr153368580933686354E074-36448
chr153371713333717223E074-5579
chr153371732533717681E074-5121
chr153368638133686475E081-36327
chr153368652633686619E081-36183
chr153368669633686888E081-35914
chr153369059033690737E081-32065
chr153369084433690922E081-31880
chr153369107333691123E081-31679
chr153369456833695170E081-27632
chr153371154433711697E081-11105
chr153371189733712482E081-10320
chr153371271633712968E081-9834
chr153371304333713093E081-9709
chr153368938833689481E082-33321
chr153368953033689580E082-33222
chr153368970933689807E082-32995
chr153369059033690737E082-32065
chr153369084433690922E082-31880
chr153371074033710790E082-12012
chr153371271633712968E082-9834
chr153376070933760823E08237907
chr153376109733761258E08238295