rs17172185

Homo sapiens
T>C
HECW1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0134 (4016/29968,GnomAD)
C=0190 (5552/29118,TOPMED)
C=0180 (900/5008,1000G)
C=0055 (211/3854,ALSPAC)
C=0051 (190/3708,TWINSUK)
chr7:43247240 (GRCh38.p7) (7p14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
52 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.43247240T>C
GRCh37.p13 chr 7NC_000007.13:g.43286839T>C

Gene: HECW1, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
HECW1 transcript variant 2NM_001287059.1:c.N/AIntron Variant
HECW1 transcript variant 1NM_015052.4:c.N/AIntron Variant
HECW1 transcript variant X6XM_005249665.3:c.N/AIntron Variant
HECW1 transcript variant X4XM_006715670.3:c.N/AIntron Variant
HECW1 transcript variant X5XM_006715671.3:c.N/AIntron Variant
HECW1 transcript variant X15XM_006715673.3:c.N/AIntron Variant
HECW1 transcript variant X8XM_011515220.2:c.N/AIntron Variant
HECW1 transcript variant X13XM_011515223.2:c.N/AIntron Variant
HECW1 transcript variant X1XM_017011882.1:c.N/AIntron Variant
HECW1 transcript variant X2XM_017011883.1:c.N/AIntron Variant
HECW1 transcript variant X3XM_017011884.1:c.N/AIntron Variant
HECW1 transcript variant X7XM_017011885.1:c.N/AIntron Variant
HECW1 transcript variant X9XM_017011886.1:c.N/AIntron Variant
HECW1 transcript variant X10XM_017011887.1:c.N/AIntron Variant
HECW1 transcript variant X11XM_017011888.1:c.N/AIntron Variant
HECW1 transcript variant X16XM_017011889.1:c.N/AIntron Variant
HECW1 transcript variant X19XM_017011890.1:c.N/AIntron Variant
HECW1 transcript variant X12XM_011515222.2:c.N/AGenic Upstream Transcript Variant
HECW1 transcript variant X14XM_011515224.2:c.N/AGenic Upstream Transcript Variant
HECW1 transcript variant X17XM_011515225.2:c.N/AGenic Upstream Transcript Variant
HECW1 transcript variant X18XM_011515226.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.638C=0.362
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=0.750C=0.250
1000GenomesEuropeSub1006T=0.925C=0.075
1000GenomesGlobalStudy-wide5008T=0.820C=0.180
1000GenomesSouth AsianSub978T=0.950C=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.945C=0.055
The Genome Aggregation DatabaseAfricanSub8710T=0.668C=0.332
The Genome Aggregation DatabaseAmericanSub838T=0.930C=0.070
The Genome Aggregation DatabaseEast AsianSub1614T=0.786C=0.214
The Genome Aggregation DatabaseEuropeSub18504T=0.963C=0.036
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.866C=0.134
The Genome Aggregation DatabaseOtherSub302T=0.870C=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.809C=0.190
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.949C=0.051
PMID Title Author Journal
20018077Incorporating biological knowledge in the search for gene x gene interaction in genome-wide association studies.Manning AKBMC Proc

P-Value

SNP ID p-value Traits Study
rs171721858.52E-05alcoholismpha002893

eQTL of rs17172185 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 rs17172185 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 )
chr74328386643284154E067-2685
chr74328447543284587E067-2252
chr74328667843286866E0670
chr74328691943286983E06780
chr74328780343287894E067964
chr74328792743288031E0671088
chr74328806243288214E0671223
chr74328447543284587E068-2252
chr74333372343334350E06846884
chr74325055843250618E069-36221
chr74325070843250777E069-36062
chr74324626243246332E070-40507
chr74328792743288031E0721088
chr74328806243288214E0721223
chr74329015843290355E0723319
chr74333355343333634E07246714
chr74333365343333703E07246814
chr74333372343334350E07246884
chr74327374743273827E073-13012
chr74327383443273919E073-12920
chr74327442943274511E073-12328
chr74327455043274698E073-12141
chr74328248743282726E073-4113
chr74328281943282873E073-3966
chr74328296043283010E073-3829
chr74328447543284587E073-2252
chr74328474543284810E073-2029
chr74328493143285029E073-1810
chr74328505143285175E073-1664
chr74328624743286351E073-488
chr74328780343287894E073964
chr74328792743288031E0731088
chr74328806243288214E0731223
chr74329015843290355E0733319
chr74331798543318035E07331146
chr74331819043318240E07331351
chr74333355343333634E07346714
chr74333365343333703E07346814
chr74333372343334350E07346884
chr74327081743270867E081-15972
chr74327093743270987E081-15852
chr74327109043271140E081-15699
chr74327115743271211E081-15628
chr74327340943273573E081-13266
chr74327362143273677E081-13162
chr74327374743273827E081-13012
chr74328792743288031E0811088
chr74328806243288214E0811223
chr74329015843290355E0813319
chr74328030443280418E082-6421
chr74328053143280598E082-6241
chr74328067843280784E082-6055