rs2286948

Homo sapiens
C>T
FUZ : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0289 (8651/29934,GnomAD)
T=0241 (7030/29118,TOPMED)
T=0315 (1579/5008,1000G)
T=0369 (1424/3854,ALSPAC)
T=0354 (1314/3708,TWINSUK)
chr19:49813497 (GRCh38.p7) (19q13.33)
AD
GWASdb2
2   publication(s)
See rs on genome
125 Enhancers around
66 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.49813497C>T
GRCh37.p13 chr 19NC_000019.9:g.50316754C>T
MED25 RefSeqGene LRG_368
FUZ RefSeqGeneNG_032843.1:g.4814G>A

Gene: FUZ, fuzzy planar cell polarity protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FUZ transcript variant 2NM_001171937.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant 1NM_025129.4:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant 3NR_033269.1:n.N/AGenic Upstream Transcript Variant
FUZ transcript variant X16XM_011527347.1:c.N/AIntron Variant
FUZ transcript variant X3XM_011527341.2:c.N/A5 Prime UTR Variant
FUZ transcript variant X11XM_006723399.3:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X1XM_011527339.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X2XM_011527340.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X5XM_011527342.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X8XM_011527343.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X14XM_011527345.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X15XM_011527346.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X4XM_017027319.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X10XM_017027320.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X17XM_017027321.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X15XM_017027322.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X21XM_017027323.1:c.N/AGenic Upstream Transcript Variant
FUZ transcript variant X9XR_001753764.1:n.N/AGenic Upstream Transcript Variant
FUZ transcript variant X19XR_001753765.1:n.N/AGenic Upstream Transcript Variant
FUZ transcript variant X17XR_001753766.1:n.N/AGenic Upstream Transcript Variant
FUZ transcript variant X13XR_935862.1:n.N/AGenic Upstream Transcript Variant
FUZ transcript variant X22XR_935863.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.959T=0.041
1000GenomesAmericanSub694C=0.560T=0.440
1000GenomesEast AsianSub1008C=0.500T=0.500
1000GenomesEuropeSub1006C=0.612T=0.388
1000GenomesGlobalStudy-wide5008C=0.685T=0.315
1000GenomesSouth AsianSub978C=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.631T=0.369
The Genome Aggregation DatabaseAfricanSub8726C=0.913T=0.087
The Genome Aggregation DatabaseAmericanSub836C=0.540T=0.460
The Genome Aggregation DatabaseEast AsianSub1618C=0.529T=0.471
The Genome Aggregation DatabaseEuropeSub18452C=0.639T=0.361
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.711T=0.289
The Genome Aggregation DatabaseOtherSub302C=0.710T=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.758T=0.241
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.646T=0.354
PMID Title Author Journal
22238607Large-scale pathway-based analysis of bladder cancer genome-wide association data from five studies of European background.Menashe IPLoS One
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22869480.000688alcohol dependence21314694

eQTL of rs2286948 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 rs2286948 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 )
chr195027201350272126E067-44628
chr195027215150272210E067-44544
chr195027255550272608E067-44146
chr195027261450272699E067-44055
chr195027273550272832E067-43922
chr195027289050272972E067-43782
chr195027640350276594E067-40160
chr195027668650276780E067-39974
chr195027691950276969E067-39785
chr195027726850277558E067-39196
chr195027772750277922E067-38832
chr195027894950279264E067-37490
chr195027947750279869E067-36885
chr195027988950279944E067-36810
chr195031357150313676E067-3078
chr195031761350317734E067859
chr195031776750318353E0671013
chr195035701750357754E06740263
chr195036117150362583E06744417
chr195027201350272126E068-44628
chr195027215150272210E068-44544
chr195027255550272608E068-44146
chr195027261450272699E068-44055
chr195027273550272832E068-43922
chr195027289050272972E068-43782
chr195028962450290191E068-26563
chr195030439850304857E068-11897
chr195031357150313676E068-3078
chr195031761350317734E068859
chr195031776750318353E0681013
chr195035651750356633E06839763
chr195035676750356838E06840013
chr195035701750357754E06840263
chr195036117150362583E06844417
chr195027255550272608E069-44146
chr195027261450272699E069-44055
chr195027273550272832E069-43922
chr195027289050272972E069-43782
chr195027343950273581E069-43173
chr195027640350276594E069-40160
chr195027668650276780E069-39974
chr195027691950276969E069-39785
chr195027726850277558E069-39196
chr195027772750277922E069-38832
chr195030657750306678E069-10076
chr195035651750356633E06939763
chr195036117150362583E06944417
chr195035701750357754E07040263
chr195027201350272126E071-44628
chr195027215150272210E071-44544
chr195027726850277558E071-39196
chr195027772750277922E071-38832
chr195030439850304857E071-11897
chr195031357150313676E071-3078
chr195031538250315494E071-1260
chr195031761350317734E071859
chr195035651750356633E07139763
chr195035676750356838E07140013
chr195035684850356913E07140094
chr195035701750357754E07140263
chr195036117150362583E07144417
chr195027255550272608E072-44146
chr195027273550272832E072-43922
chr195027289050272972E072-43782
chr195027627150276335E072-40419
chr195027640350276594E072-40160
chr195027668650276780E072-39974
chr195027691950276969E072-39785
chr195027726850277558E072-39196
chr195027772750277922E072-38832
chr195027894950279264E072-37490
chr195027947750279869E072-36885
chr195027988950279944E072-36810
chr195028425950284430E072-32324
chr195029419850294468E072-22286
chr195029450450294607E072-22147
chr195029466650294746E072-22008
chr195029479950294890E072-21864
chr195029494450295000E072-21754
chr195031761350317734E072859
chr195035651750356633E07239763
chr195035701750357754E07240263
chr195036117150362583E07244417
chr195027201350272126E073-44628
chr195027726850277558E073-39196
chr195028425950284430E073-32324
chr195028477650284918E073-31836
chr195028503250285142E073-31612
chr195029367450293792E073-22962
chr195029419850294468E073-22286
chr195029450450294607E073-22147
chr195029466650294746E073-22008
chr195029479950294890E073-21864
chr195030657750306678E073-10076
chr195035651750356633E07339763
chr195035676750356838E07340013
chr195035684850356913E07340094
chr195035701750357754E07340263
chr195036036050361126E07343606
chr195036117150362583E07344417
chr195027640350276594E074-40160
chr195027668650276780E074-39974
chr195027691950276969E074-39785
chr195027726850277558E074-39196
chr195031538250315494E074-1260
chr195036117150362583E07444417
chr195027201350272126E081-44628
chr195027215150272210E081-44544
chr195030403550304320E081-12434
chr195030439850304857E081-11897
chr195030657750306678E081-10076
chr195031357150313676E081-3078
chr195031538250315494E081-1260
chr195031761350317734E081859
chr195035651750356633E08139763
chr195035676750356838E08140013
chr195035684850356913E08140094
chr195035701750357754E08140263
chr195027201350272126E082-44628
chr195027215150272210E082-44544
chr195027255550272608E082-44146
chr195027261450272699E082-44055
chr195027273550272832E082-43922
chr195027289050272972E082-43782
chr195031538250315494E082-1260










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr195026863850271265E067-45489
chr195030522450306504E067-10250
chr195031552250317588E0670
chr195031995650321071E0673202
chr195032107750323097E0674323
chr195035269350356342E06735939
chr195026863850271265E068-45489
chr195030494150305003E068-11751
chr195030507350305146E068-11608
chr195030522450306504E068-10250
chr195031552250317588E0680
chr195031995650321071E0683202
chr195032107750323097E0684323
chr195035269350356342E06835939
chr195026863850271265E069-45489
chr195031552250317588E0690
chr195031995650321071E0693202
chr195032107750323097E0694323
chr195035269350356342E06935939
chr195026863850271265E070-45489
chr195030494150305003E070-11751
chr195030507350305146E070-11608
chr195030522450306504E070-10250
chr195031552250317588E0700
chr195031995650321071E0703202
chr195032107750323097E0704323
chr195035269350356342E07035939
chr195026863850271265E071-45489
chr195030494150305003E071-11751
chr195030507350305146E071-11608
chr195030522450306504E071-10250
chr195031552250317588E0710
chr195031995650321071E0713202
chr195032107750323097E0714323
chr195035269350356342E07135939
chr195026863850271265E072-45489
chr195030507350305146E072-11608
chr195030522450306504E072-10250
chr195031552250317588E0720
chr195031995650321071E0723202
chr195032107750323097E0724323
chr195035269350356342E07235939
chr195026863850271265E073-45489
chr195030494150305003E073-11751
chr195030507350305146E073-11608
chr195031552250317588E0730
chr195031995650321071E0733202
chr195032107750323097E0734323
chr195035269350356342E07335939
chr195026863850271265E074-45489
chr195031552250317588E0740
chr195031995650321071E0743202
chr195032107750323097E0744323
chr195035269350356342E07435939
chr195026863850271265E081-45489
chr195031552250317588E0810
chr195031995650321071E0813202
chr195032107750323097E0814323
chr195026863850271265E082-45489
chr195030494150305003E082-11751
chr195030507350305146E082-11608
chr195030522450306504E082-10250
chr195031552250317588E0820
chr195031995650321071E0823202
chr195032107750323097E0824323
chr195035269350356342E08235939