rs216318

Homo sapiens
A>C
VWF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0090 (2716/29970,GnomAD)
A==0071 (2067/29118,TOPMED)
A==0100 (499/5008,1000G)
chr12:6030095 (GRCh38.p7) (12p13.31)
AD
GWASdb2
4   publication(s)
See rs on genome
134 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.6030095A>C
GRCh37.p13 chr 12NC_000012.11:g.6139261A>C
VWF RefSeqGeneNG_009072.1:g.99576T>G

Gene: VWF, von Willebrand factor(minus strand)

Molecule type Change Amino acid[Codon] SO Term
VWF transcriptNM_000552.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.033C=0.967
1000GenomesAmericanSub694A=0.070C=0.930
1000GenomesEast AsianSub1008A=0.204C=0.796
1000GenomesEuropeSub1006A=0.086C=0.914
1000GenomesGlobalStudy-wide5008A=0.100C=0.900
1000GenomesSouth AsianSub978A=0.110C=0.890
The Genome Aggregation DatabaseAfricanSub8724A=0.041C=0.959
The Genome Aggregation DatabaseAmericanSub836A=0.080C=0.920
The Genome Aggregation DatabaseEast AsianSub1622A=0.200C=0.800
The Genome Aggregation DatabaseEuropeSub18486A=0.104C=0.895
The Genome Aggregation DatabaseGlobalStudy-wide29970A=0.090C=0.909
The Genome Aggregation DatabaseOtherSub302A=0.090C=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.071C=0.929
PMID Title Author Journal
21810271Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.Antoni GBMC Med Genet
22022282A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains.Avery CLPLoS Genet
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
21343614Genetic determinants of plasma von Willebrand factor antigen levels: a target gene SNP and haplotype analysis of ARIC cohort.Campos MBlood

P-Value

SNP ID p-value Traits Study
rs2163180.000323alcohol dependence21314694

eQTL of rs216318 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 rs216318 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 )
chr1260978306098301E067-40960
chr1261704576170507E06731196
chr1261705466170649E06731285
chr1261809766181063E06741715
chr1261810836181240E06741822
chr1261827056182860E06743444
chr1261873226187518E06748061
chr1261875976188182E06748336
chr1260978306098301E068-40960
chr1261732596173336E06833998
chr1261733736173434E06834112
chr1261734556173514E06834194
chr1261736256173702E06834364
chr1261740416174113E06834780
chr1261741426174210E06834881
chr1261742686174387E06835007
chr1261744736174641E06835212
chr1261748086174858E06835547
chr1261750126175273E06835751
chr1261752746175360E06836013
chr1261753706175435E06836109
chr1261757056175770E06836444
chr1261825806182658E06843319
chr1261827056182860E06843444
chr1261830316183089E06843770
chr1261836776184771E06844416
chr1261873226187518E06848061
chr1261875976188182E06848336
chr1261882776188317E06849016
chr1261705466170649E06931285
chr1261709636171114E06931702
chr1261712066171250E06931945
chr1261714026171452E06932141
chr1261714676171531E06932206
chr1261715716171781E06932310
chr1261720296172924E06932768
chr1261744736174641E06935212
chr1261748086174858E06935547
chr1261750126175273E06935751
chr1261752746175360E06936013
chr1261753706175435E06936109
chr1261757056175770E06936444
chr1261809766181063E06941715
chr1261810836181240E06941822
chr1261815076182006E06942246
chr1261825046182554E06943243
chr1261825806182658E06943319
chr1261827056182860E06943444
chr1261849426184992E06945681
chr1261873226187518E06948061
chr1261875976188182E06948336
chr1260978306098301E071-40960
chr1261588286159104E07119567
chr1261592846159472E07120023
chr1261595026159616E07120241
chr1261682686168363E07129007
chr1261690316169081E07129770
chr1261693686169619E07130107
chr1261715716171781E07132310
chr1261732596173336E07133998
chr1261744736174641E07135212
chr1261748086174858E07135547
chr1261750126175273E07135751
chr1261780136178125E07138752
chr1261784936179252E07139232
chr1261809766181063E07141715
chr1261810836181240E07141822
chr1261815076182006E07142246
chr1261825046182554E07143243
chr1261825806182658E07143319
chr1261827056182860E07143444
chr1261830316183089E07143770
chr1261832646183318E07144003
chr1261833816183600E07144120
chr1261836776184771E07144416
chr1261849426184992E07145681
chr1261873226187518E07148061
chr1261875976188182E07148336
chr1260978306098301E072-40960
chr1261333396133522E072-5739
chr1261592846159472E07220023
chr1261715716171781E07232310
chr1261718126172014E07232551
chr1261720296172924E07232768
chr1261741426174210E07234881
chr1261742686174387E07235007
chr1261744736174641E07235212
chr1261748086174858E07235547
chr1261750126175273E07235751
chr1261752746175360E07236013
chr1261753706175435E07236109
chr1261757056175770E07236444
chr1261815076182006E07242246
chr1261825046182554E07243243
chr1261825806182658E07243319
chr1261827056182860E07243444
chr1261830316183089E07243770
chr1261832646183318E07244003
chr1261833816183600E07244120
chr1261873226187518E07248061
chr1261875976188182E07248336
chr1260978306098301E073-40960
chr1261709636171114E07331702
chr1261712066171250E07331945
chr1261714026171452E07332141
chr1261714676171531E07332206
chr1261715716171781E07332310
chr1261720296172924E07332768
chr1261732596173336E07333998
chr1261733736173434E07334112
chr1261750126175273E07335751
chr1261752746175360E07336013
chr1261753706175435E07336109
chr1261836776184771E07344416
chr1261849426184992E07345681
chr1261873226187518E07348061
chr1261875976188182E07348336
chr1261714026171452E07432141
chr1261714676171531E07432206
chr1261715716171781E07432310
chr1261718126172014E07432551
chr1261720296172924E07432768
chr1261744736174641E07435212
chr1261748086174858E07435547
chr1261750126175273E07435751
chr1261752746175360E07436013
chr1261753706175435E07436109
chr1261784936179252E07439232
chr1261815076182006E07442246
chr1261849426184992E07445681
chr1261873226187518E07448061
chr1261875976188182E07448336
chr1260946886094767E081-44494
chr1260949096095123E081-44138