rs514463

Homo sapiens
G>A
MAGI2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0201 (6029/29936,GnomAD)
G==0280 (8156/29118,TOPMED)
G==0277 (1387/5008,1000G)
G==0068 (263/3854,ALSPAC)
G==0068 (252/3708,TWINSUK)
chr7:78875415 (GRCh38.p7) (7q21.11)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.78875415G>A
GRCh37.p13 chr 7NC_000007.13:g.78504731G>A
MAGI2 RefSeqGeneNG_011487.1:g.583160C>T

Gene: MAGI2, membrane associated guanylate kinase, WW and PDZ domain containing 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MAGI2 transcript variant 2NM_001301128.1:c.N/AIntron Variant
MAGI2 transcript variant 1NM_012301.3:c.N/AIntron Variant
MAGI2 transcript variant X6XM_011516718.1:c.N/AIntron Variant
MAGI2 transcript variant X1XM_017012840.1:c.N/AIntron Variant
MAGI2 transcript variant X2XM_017012841.1:c.N/AIntron Variant
MAGI2 transcript variant X3XM_017012842.1:c.N/AIntron Variant
MAGI2 transcript variant X4XM_017012843.1:c.N/AIntron Variant
MAGI2 transcript variant X5XM_017012844.1:c.N/AIntron Variant
MAGI2 transcript variant X7XM_017012845.1:c.N/AIntron Variant
MAGI2 transcript variant X8XM_017012846.1:c.N/AIntron Variant
MAGI2 transcript variant X14XM_017012850.1:c.N/AIntron Variant
MAGI2 transcript variant X15XM_017012851.1:c.N/AIntron Variant
MAGI2 transcript variant X16XM_017012852.1:c.N/AIntron Variant
MAGI2 transcript variant X9XM_011516719.2:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X10XM_011516720.2:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X17XM_011516726.2:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X19XM_011516728.1:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X11XM_017012847.1:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X12XM_017012848.1:c.N/AGenic Upstream Transcript Variant
MAGI2 transcript variant X13XM_017012849.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.626A=0.374
1000GenomesAmericanSub694G=0.200A=0.800
1000GenomesEast AsianSub1008G=0.235A=0.765
1000GenomesEuropeSub1006G=0.056A=0.944
1000GenomesGlobalStudy-wide5008G=0.277A=0.723
1000GenomesSouth AsianSub978G=0.130A=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.068A=0.932
The Genome Aggregation DatabaseAfricanSub8690G=0.518A=0.482
The Genome Aggregation DatabaseAmericanSub836G=0.190A=0.810
The Genome Aggregation DatabaseEast AsianSub1616G=0.256A=0.744
The Genome Aggregation DatabaseEuropeSub18492G=0.050A=0.949
The Genome Aggregation DatabaseGlobalStudy-wide29936G=0.201A=0.798
The Genome Aggregation DatabaseOtherSub302G=0.070A=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.280A=0.719
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.068A=0.932
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
rs5144630.000652nicotine smoking19268276

eQTL of rs514463 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 rs514463 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 )
chr77847975178479838E067-24893
chr77847992178480028E067-24703
chr77848009378480143E067-24588
chr77848059678480775E067-23956
chr77847975178479838E069-24893
chr77847992178480028E069-24703
chr77848009378480143E069-24588
chr77849313378493372E070-11359
chr77849379578493914E070-10817
chr77847975178479838E071-24893
chr77847992178480028E071-24703
chr77848009378480143E071-24588
chr77853194378532003E07127212
chr77853205878532151E07127327
chr77853224878532479E07127517
chr77847975178479838E072-24893
chr77847992178480028E072-24703
chr77848009378480143E072-24588
chr77848059678480775E072-23956
chr77847975178479838E073-24893
chr77847992178480028E073-24703
chr77848009378480143E073-24588
chr77847992178480028E074-24703
chr77848009378480143E074-24588
chr77848059678480775E074-23956
chr77849251978493113E082-11618
chr77849313378493372E082-11359
chr77849379578493914E082-10817
chr77853019978530436E08225468
chr77853049278530555E08225761