rs1800385

Homo sapiens
C>A
VWF : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0143 (17328/120810,ExAC)
A=0084 (2512/29906,GnomAD)
A=0067 (1967/29118,TOPMED)
C==0061 (794/13006,GO-ESP)
A=0176 (880/5008,1000G)
A=0084 (325/3854,ALSPAC)
A=0079 (292/3708,TWINSUK)
chr12:6018725 (GRCh38.p7) (12p13.31)
AD
GWASdb2
3   publication(s)
See rs on genome
80 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.6018725C>A
GRCh37.p13 chr 12NC_000012.11:g.6127891C>A
VWF RefSeqGeneNG_009072.1:g.110946G>T

Gene: VWF, von Willebrand factor(minus strand)

Molecule type Change Amino acid[Codon] SO Term
VWF transcriptNM_000552.4:c.469...NM_000552.4:c.4693G>TV [GTG]> L [TTG]Coding Sequence Variant
von Willebrand factor preproproteinNP_000543.2:p.Val...NP_000543.2:p.Val1565LeuV [Val]> L [Leu]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.994A=0.006
1000GenomesAmericanSub694C=0.720A=0.280
1000GenomesEast AsianSub1008C=0.630A=0.370
1000GenomesEuropeSub1006C=0.924A=0.076
1000GenomesGlobalStudy-wide5008C=0.824A=0.176
1000GenomesSouth AsianSub978C=0.770A=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.916A=0.084
The Exome Aggregation ConsortiumAmericanSub21864C=0.787A=0.212
The Exome Aggregation ConsortiumAsianSub25076C=0.734A=0.265
The Exome Aggregation ConsortiumEuropeSub72966C=0.919A=0.080
The Exome Aggregation ConsortiumGlobalStudy-wide120810C=0.856A=0.143
The Exome Aggregation ConsortiumOtherSub904C=0.870A=0.130
The Genome Aggregation DatabaseAfricanSub8700C=0.976A=0.024
The Genome Aggregation DatabaseAmericanSub838C=0.660A=0.340
The Genome Aggregation DatabaseEast AsianSub1612C=0.624A=0.376
The Genome Aggregation DatabaseEuropeSub18454C=0.924A=0.075
The Genome Aggregation DatabaseGlobalStudy-wide29906C=0.916A=0.084
The Genome Aggregation DatabaseOtherSub302C=0.920A=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.932A=0.067
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.921A=0.079
PMID Title Author Journal
17296575The association between the L1565 variant of von Willebrand factor and susceptibility to proteolysis by ADAMTS13.Davies JAHaematologica
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
25741868Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Richards SGenet Med

P-Value

SNP ID p-value Traits Study
rs18003850.000839alcohol dependence21314694

eQTL of rs1800385 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 rs1800385 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 )
chr1260978306098301E067-29590
chr1261704576170507E06742566
chr1261705466170649E06742655
chr1260978306098301E068-29590
chr1261732596173336E06845368
chr1261733736173434E06845482
chr1261734556173514E06845564
chr1261736256173702E06845734
chr1261740416174113E06846150
chr1261741426174210E06846251
chr1261742686174387E06846377
chr1261744736174641E06846582
chr1261748086174858E06846917
chr1261750126175273E06847121
chr1261752746175360E06847383
chr1261753706175435E06847479
chr1261757056175770E06847814
chr1261705466170649E06942655
chr1261709636171114E06943072
chr1261712066171250E06943315
chr1261714026171452E06943511
chr1261714676171531E06943576
chr1261715716171781E06943680
chr1261720296172924E06944138
chr1261744736174641E06946582
chr1261748086174858E06946917
chr1261750126175273E06947121
chr1261752746175360E06947383
chr1261753706175435E06947479
chr1261757056175770E06947814
chr1260978306098301E071-29590
chr1261588286159104E07130937
chr1261592846159472E07131393
chr1261595026159616E07131611
chr1261682686168363E07140377
chr1261690316169081E07141140
chr1261693686169619E07141477
chr1261715716171781E07143680
chr1261732596173336E07145368
chr1261744736174641E07146582
chr1261748086174858E07146917
chr1261750126175273E07147121
chr1260978306098301E072-29590
chr1261333396133522E0725448
chr1261592846159472E07231393
chr1261715716171781E07243680
chr1261718126172014E07243921
chr1261720296172924E07244138
chr1261741426174210E07246251
chr1261742686174387E07246377
chr1261744736174641E07246582
chr1261748086174858E07246917
chr1261750126175273E07247121
chr1261752746175360E07247383
chr1261753706175435E07247479
chr1261757056175770E07247814
chr1260978306098301E073-29590
chr1261709636171114E07343072
chr1261712066171250E07343315
chr1261714026171452E07343511
chr1261714676171531E07343576
chr1261715716171781E07343680
chr1261720296172924E07344138
chr1261732596173336E07345368
chr1261733736173434E07345482
chr1261750126175273E07347121
chr1261752746175360E07347383
chr1261753706175435E07347479
chr1261714026171452E07443511
chr1261714676171531E07443576
chr1261715716171781E07443680
chr1261718126172014E07443921
chr1261720296172924E07444138
chr1261744736174641E07446582
chr1261748086174858E07446917
chr1261750126175273E07447121
chr1261752746175360E07447383
chr1261753706175435E07447479
chr1260946886094767E081-33124
chr1260949096095123E081-32768