rs1598994

Homo sapiens
T>G
MYRIP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0036 (1091/29980,GnomAD)
G=0023 (678/29118,TOPMED)
G=0015 (74/5008,1000G)
G=0057 (220/3854,ALSPAC)
G=0058 (216/3708,TWINSUK)
chr3:39934271 (GRCh38.p7) (3p22.1)
ND
GWASdb2
1   publication(s)
See rs on genome
89 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.39934271T>G
GRCh37.p13 chr 3NC_000003.11:g.39975762T>G

Gene: MYRIP, myosin VIIA and Rab interacting protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MYRIP transcript variant 2NM_001284423.1:c.N/AIntron Variant
MYRIP transcript variant 3NM_001284424.1:c.N/AIntron Variant
MYRIP transcript variant 4NM_001284425.1:c.N/AIntron Variant
MYRIP transcript variant 1NM_015460.3:c.N/AIntron Variant
MYRIP transcript variant 5NM_001284426.1:c.N/AGenic Upstream Transcript Variant
MYRIP transcript variant 6NR_104316.1:n.N/AIntron Variant
MYRIP transcript variant X1XM_011533575.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.998G=0.002
1000GenomesAmericanSub694T=0.990G=0.010
1000GenomesEast AsianSub1008T=0.999G=0.001
1000GenomesEuropeSub1006T=0.949G=0.051
1000GenomesGlobalStudy-wide5008T=0.985G=0.015
1000GenomesSouth AsianSub978T=0.990G=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.943G=0.057
The Genome Aggregation DatabaseAfricanSub8736T=0.992G=0.008
The Genome Aggregation DatabaseAmericanSub838T=0.970G=0.030
The Genome Aggregation DatabaseEast AsianSub1618T=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18486T=0.947G=0.052
The Genome Aggregation DatabaseGlobalStudy-wide29980T=0.963G=0.036
The Genome Aggregation DatabaseOtherSub302T=0.930G=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.976G=0.023
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.942G=0.058
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
rs15989940.000103nicotine smoking19268276

eQTL of rs1598994 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 rs1598994 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 )
chr33997601939976109E067257
chr33997622439976294E067462
chr33997632739976529E067565
chr33997694439977042E0671182
chr33997811939978179E0672357
chr33997863139978805E0672869
chr33997893539979149E0673173
chr33997932539979401E0673563
chr33997949539979616E0673733
chr34000413540004384E06728373
chr34001981240020187E06744050
chr33997562739975752E068-10
chr33997584639975982E06884
chr33997601939976109E068257
chr33997622439976294E068462
chr33997632739976529E068565
chr33997694439977042E0681182
chr33997811939978179E0682357
chr33997863139978805E0682869
chr33997893539979149E0683173
chr33997932539979401E0683563
chr33997949539979616E0683733
chr33994949539949875E069-25887
chr33994995239950002E069-25760
chr33997562739975752E069-10
chr33997584639975982E06984
chr33997601939976109E069257
chr33997622439976294E069462
chr33997632739976529E069565
chr33997811939978179E0692357
chr33997863139978805E0692869
chr33997893539979149E0693173
chr33997932539979401E0693563
chr33997949539979616E0693733
chr34000413540004384E06928373
chr33994949539949875E071-25887
chr33994995239950002E071-25760
chr33995236539953713E071-22049
chr33997562739975752E071-10
chr33997584639975982E07184
chr33997601939976109E071257
chr33997622439976294E071462
chr33997632739976529E071565
chr33997811939978179E0712357
chr33997863139978805E0712869
chr33997893539979149E0713173
chr33997932539979401E0713563
chr33997949539979616E0713733
chr33994949539949875E072-25887
chr33994995239950002E072-25760
chr33995236539953713E072-22049
chr33997562739975752E072-10
chr33997584639975982E07284
chr33997601939976109E072257
chr33997622439976294E072462
chr33997632739976529E072565
chr33997694439977042E0721182
chr33997811939978179E0722357
chr33997863139978805E0722869
chr33997893539979149E0723173
chr33997932539979401E0723563
chr33997949539979616E0723733
chr33997584639975982E07384
chr33997601939976109E073257
chr33997622439976294E073462
chr33997632739976529E073565
chr33997694439977042E0731182
chr33997811939978179E0732357
chr33997863139978805E0732869
chr33997893539979149E0733173
chr34000220140002711E07326439
chr34000326740003332E07327505
chr33997562739975752E074-10
chr33997584639975982E07484
chr33997601939976109E074257
chr33997622439976294E074462
chr33997632739976529E074565
chr33997811939978179E0742357
chr33997863139978805E0742869
chr33997893539979149E0743173
chr33997932539979401E0743563
chr33997949539979616E0743733
chr34000220140002711E08126439
chr34000326740003332E08127505
chr34000413540004384E08128373
chr34002297940023038E08147217
chr34002312440023268E08147362
chr34000220140002711E08226439
chr34001981240020187E08244050