rs7172406

Homo sapiens
G>T
RYR3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0058 (1739/29966,GnomAD)
T=0090 (2635/29118,TOPMED)
T=0102 (510/5008,1000G)
T=0003 (13/3854,ALSPAC)
T=0002 (7/3708,TWINSUK)
chr15:33849304 (GRCh38.p7) (15q14)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.33849304G>T
GRCh37.p13 chr 15NC_000015.9:g.34141505G>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/AGenic Downstream Transcript Variant
RYR3 transcript variant X12XR_001751369.1:n.N/AIntron Variant
RYR3 transcript variant X14XR_001751370.1:n.N/AGenic Downstream Transcript Variant
RYR3 transcript variant X14XR_001751371.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.746T=0.254
1000GenomesAmericanSub694G=0.980T=0.020
1000GenomesEast AsianSub1008G=1.000T=0.000
1000GenomesEuropeSub1006G=0.990T=0.010
1000GenomesGlobalStudy-wide5008G=0.898T=0.102
1000GenomesSouth AsianSub978G=0.850T=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.997T=0.003
The Genome Aggregation DatabaseAfricanSub8716G=0.807T=0.193
The Genome Aggregation DatabaseAmericanSub838G=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1622G=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18488G=0.997T=0.002
The Genome Aggregation DatabaseGlobalStudy-wide29966G=0.942T=0.058
The Genome Aggregation DatabaseOtherSub302G=0.980T=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.909T=0.090
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.998T=0.002
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
rs71724061.32E-05nicotine smoking19268276

eQTL of rs7172406 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 rs7172406 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 )
chr153416421034164403E06722705
chr153416442534164720E06722920
chr153415764334158208E06816138
chr153415826134158889E06816756
chr153416421034164403E06822705
chr153416442534164720E06822920
chr153416476834164895E06823263
chr153418594334185993E06844438
chr153418599634186078E06844491
chr153416421034164403E06922705
chr153416442534164720E06922920
chr153416476834164895E06923263
chr153411846434118546E070-22959
chr153411861934118810E070-22695
chr153416421034164403E07122705
chr153416442534164720E07122920
chr153416476834164895E07123263
chr153416421034164403E07222705
chr153416442534164720E07222920
chr153416476834164895E07223263
chr153416421034164403E07422705
chr153416442534164720E07422920
chr153416476834164895E07423263
chr153418594334185993E07444438
chr153418599634186078E07444491