rs2305949

Homo sapiens
C>A / C>T
KDR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0156 (4672/29942,GnomAD)
T=0158 (4606/29118,TOPMED)
C==0171 (2231/13006,GO-ESP)
T=0146 (732/5008,1000G)
T=0214 (826/3854,ALSPAC)
T=0214 (792/3708,TWINSUK)
chr4:55114289 (GRCh38.p7) (4q12)
AD
GWASdb2
6   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.55114289C>A
GRCh38.p7 chr 4NC_000004.12:g.55114289C>T
GRCh37.p13 chr 4NC_000004.11:g.55980456C>A
GRCh37.p13 chr 4NC_000004.11:g.55980456C>T
KDR RefSeqGeneNG_012004.1:g.16307G>T
KDR RefSeqGeneNG_012004.1:g.16307G>A

Gene: KDR, kinase insert domain receptor (a type III receptor tyrosine kinase)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KDR transcriptNM_002253.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.957T=0.043
1000GenomesAmericanSub694C=0.860T=0.140
1000GenomesEast AsianSub1008C=0.800T=0.200
1000GenomesEuropeSub1006C=0.807T=0.193
1000GenomesGlobalStudy-wide5008C=0.854T=0.146
1000GenomesSouth AsianSub978C=0.820T=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.786T=0.214
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.841T=0.158
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.786T=0.214
PMID Title Author Journal
23566851Association study between of Tie2/angiopoietin-2 and VEGF/KDR pathway gene polymorphisms and vascular malformations.Zheng QGene
24558090Genetic markers of bevacizumab-induced hypertension.Lambrechts DAngiogenesis
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
20019880Polymorphisms in the VEGFA and VEGFR-2 genes and neovascular age-related macular degeneration.Fang AMMol Vis
27932624Allele rs2010963 C of the VEGFA gene is associated with the decreased risk of primary varicose veins in ethnic Russians.Shadrina ASPhlebology
22404826Possible genetic predisposition to lymphedema after breast cancer.Newman BLymphat Res Biol

P-Value

SNP ID p-value Traits Study
rs23059493.46E-05alcohol dependence21703634

eQTL of rs2305949 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 rs2305949 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 )
chr43972062939720776E067-47098
chr43973532339735511E067-32363
chr43973553939735661E067-32213
chr43973105139731125E068-36749
chr43973532339735511E068-32363
chr43973553939735661E068-32213
chr43973532339735511E069-32363
chr43973553939735661E069-32213
chr43973105139731125E072-36749
chr43973137139731484E072-36390