rs1599903

Homo sapiens
A>C
MYRIP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0479 (14336/29924,GnomAD)
A==0471 (13738/29118,TOPMED)
A==0485 (2428/5008,1000G)
C=0397 (1529/3854,ALSPAC)
C=0396 (1467/3708,TWINSUK)
chr3:39913575 (GRCh38.p7) (3p22.1)
ND
GWASdb2
1   publication(s)
See rs on genome
85 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.39913575A>C
GRCh37.p13 chr 3NC_000003.11:g.39955066A>C

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
1000GenomesAfricanSub1322A=0.295C=0.705
1000GenomesAmericanSub694A=0.550C=0.450
1000GenomesEast AsianSub1008A=0.511C=0.489
1000GenomesEuropeSub1006A=0.557C=0.443
1000GenomesGlobalStudy-wide5008A=0.485C=0.515
1000GenomesSouth AsianSub978A=0.590C=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.603C=0.397
The Genome Aggregation DatabaseAfricanSub8712A=0.346C=0.654
The Genome Aggregation DatabaseAmericanSub838A=0.630C=0.370
The Genome Aggregation DatabaseEast AsianSub1616A=0.472C=0.528
The Genome Aggregation DatabaseEuropeSub18456A=0.603C=0.396
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.520C=0.479
The Genome Aggregation DatabaseOtherSub302A=0.510C=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.471C=0.528
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.604C=0.396
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
rs15999035.42E-05nicotine smoking19268276

eQTL of rs1599903 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 rs1599903 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 )
chr33997601939976109E06720953
chr33997622439976294E06721158
chr33997632739976529E06721261
chr33997694439977042E06721878
chr33997811939978179E06723053
chr33997863139978805E06723565
chr33997893539979149E06723869
chr33997932539979401E06724259
chr33997949539979616E06724429
chr34000413540004384E06749069
chr33997562739975752E06820561
chr33997584639975982E06820780
chr33997601939976109E06820953
chr33997622439976294E06821158
chr33997632739976529E06821261
chr33997694439977042E06821878
chr33997811939978179E06823053
chr33997863139978805E06823565
chr33997893539979149E06823869
chr33997932539979401E06824259
chr33997949539979616E06824429
chr33994949539949875E069-5191
chr33994995239950002E069-5064
chr33997562739975752E06920561
chr33997584639975982E06920780
chr33997601939976109E06920953
chr33997622439976294E06921158
chr33997632739976529E06921261
chr33997811939978179E06923053
chr33997863139978805E06923565
chr33997893539979149E06923869
chr33997932539979401E06924259
chr33997949539979616E06924429
chr34000413540004384E06949069
chr33994949539949875E071-5191
chr33994995239950002E071-5064
chr33995236539953713E071-1353
chr33997562739975752E07120561
chr33997584639975982E07120780
chr33997601939976109E07120953
chr33997622439976294E07121158
chr33997632739976529E07121261
chr33997811939978179E07123053
chr33997863139978805E07123565
chr33997893539979149E07123869
chr33997932539979401E07124259
chr33997949539979616E07124429
chr33994949539949875E072-5191
chr33994995239950002E072-5064
chr33995236539953713E072-1353
chr33997562739975752E07220561
chr33997584639975982E07220780
chr33997601939976109E07220953
chr33997622439976294E07221158
chr33997632739976529E07221261
chr33997694439977042E07221878
chr33997811939978179E07223053
chr33997863139978805E07223565
chr33997893539979149E07223869
chr33997932539979401E07224259
chr33997949539979616E07224429
chr33997584639975982E07320780
chr33997601939976109E07320953
chr33997622439976294E07321158
chr33997632739976529E07321261
chr33997694439977042E07321878
chr33997811939978179E07323053
chr33997863139978805E07323565
chr33997893539979149E07323869
chr34000220140002711E07347135
chr34000326740003332E07348201
chr33997562739975752E07420561
chr33997584639975982E07420780
chr33997601939976109E07420953
chr33997622439976294E07421158
chr33997632739976529E07421261
chr33997811939978179E07423053
chr33997863139978805E07423565
chr33997893539979149E07423869
chr33997932539979401E07424259
chr33997949539979616E07424429
chr34000220140002711E08147135
chr34000326740003332E08148201
chr34000413540004384E08149069
chr34000220140002711E08247135