rs10800913

Homo sapiens
G>A
FMOD : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0155 (4647/29898,GnomAD)
G==0189 (5510/29118,TOPMED)
G==0192 (960/5008,1000G)
G==0103 (398/3854,ALSPAC)
G==0107 (397/3708,TWINSUK)
chr1:203346765 (GRCh38.p7) (1q32.1)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.203346765G>A
GRCh37.p13 chr 1NC_000001.10:g.203315893G>A

Gene: FMOD, fibromodulin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FMOD transcript variant 1NM_002023.4:c.N/AIntron Variant
FMOD transcript variant 2NR_103757.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.232A=0.768
1000GenomesAmericanSub694G=0.150A=0.850
1000GenomesEast AsianSub1008G=0.278A=0.722
1000GenomesEuropeSub1006G=0.095A=0.905
1000GenomesGlobalStudy-wide5008G=0.192A=0.808
1000GenomesSouth AsianSub978G=0.180A=0.820
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.103A=0.897
The Genome Aggregation DatabaseAfricanSub8674G=0.247A=0.753
The Genome Aggregation DatabaseAmericanSub834G=0.200A=0.800
The Genome Aggregation DatabaseEast AsianSub1618G=0.287A=0.713
The Genome Aggregation DatabaseEuropeSub18470G=0.099A=0.900
The Genome Aggregation DatabaseGlobalStudy-wide29898G=0.155A=0.844
The Genome Aggregation DatabaseOtherSub302G=0.140A=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.189A=0.810
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.107A=0.893
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs108009130.000854alcohol consumption (maxi-drinks)24277619

eQTL of rs10800913 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 rs10800913 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 )
chr1203273078203273533E067-42360
chr1203291757203292368E067-23525
chr1203292380203292547E067-23346
chr1203292553203292734E067-23159
chr1203292748203295313E067-20580
chr1203295315203295526E067-20367
chr1203295565203295728E067-20165
chr1203308074203308191E067-7702
chr1203309001203309591E067-6302
chr1203309745203309811E067-6082
chr1203309883203309935E067-5958
chr1203318752203318804E0672859
chr1203318893203318978E0673000
chr1203319095203319238E0673202
chr1203319270203319360E0673377
chr1203319399203319578E0673506
chr1203323303203323701E0677410
chr1203335687203335956E06719794
chr1203336296203336499E06720403
chr1203336577203336666E06720684
chr1203336687203336737E06720794
chr1203348419203348794E06732526
chr1203348823203349006E06732930
chr1203349016203349257E06733123
chr1203350601203350805E06734708
chr1203350853203351011E06734960
chr1203273078203273533E068-42360
chr1203289549203290773E068-25120
chr1203290990203291040E068-24853
chr1203291068203291178E068-24715
chr1203291311203291729E068-24164
chr1203291757203292368E068-23525
chr1203292380203292547E068-23346
chr1203292553203292734E068-23159
chr1203292748203295313E068-20580
chr1203295315203295526E068-20367
chr1203295565203295728E068-20165
chr1203297584203297915E068-17978
chr1203309001203309591E068-6302
chr1203311253203311484E068-4409
chr1203311506203312080E068-3813
chr1203318752203318804E0682859
chr1203318893203318978E0683000
chr1203319095203319238E0683202
chr1203319270203319360E0683377
chr1203319399203319578E0683506
chr1203328427203328521E06812534
chr1203335687203335956E06819794
chr1203336296203336499E06820403
chr1203336577203336666E06820684
chr1203336687203336737E06820794
chr1203336819203336892E06820926
chr1203273078203273533E069-42360
chr1203290990203291040E069-24853
chr1203291068203291178E069-24715
chr1203291311203291729E069-24164
chr1203291757203292368E069-23525
chr1203292380203292547E069-23346
chr1203292553203292734E069-23159
chr1203292748203295313E069-20580
chr1203295315203295526E069-20367
chr1203295565203295728E069-20165
chr1203297584203297915E069-17978
chr1203309001203309591E069-6302
chr1203318752203318804E0692859
chr1203318893203318978E0693000
chr1203319095203319238E0693202
chr1203319270203319360E0693377
chr1203319399203319578E0693506
chr1203331091203331568E06915198
chr1203335687203335956E06919794
chr1203336296203336499E06920403
chr1203336577203336666E06920684
chr1203336687203336737E06920794
chr1203266062203266123E070-49770
chr1203266168203266258E070-49635
chr1203266313203266402E070-49491
chr1203268339203268752E070-47141
chr1203289219203289307E070-26586
chr1203289325203289510E070-26383
chr1203289549203290773E070-25120
chr1203290990203291040E070-24853
chr1203291068203291178E070-24715
chr1203291311203291729E070-24164
chr1203291757203292368E070-23525
chr1203292380203292547E070-23346
chr1203292553203292734E070-23159
chr1203292748203295313E070-20580
chr1203297584203297915E070-17978
chr1203297933203298350E070-17543
chr1203308668203308827E070-7066
chr1203309001203309591E070-6302
chr1203309745203309811E070-6082
chr1203289325203289510E071-26383
chr1203289549203290773E071-25120
chr1203290990203291040E071-24853
chr1203291068203291178E071-24715
chr1203291311203291729E071-24164
chr1203291757203292368E071-23525
chr1203292380203292547E071-23346
chr1203292553203292734E071-23159
chr1203292748203295313E071-20580
chr1203295315203295526E071-20367
chr1203295565203295728E071-20165
chr1203304743203304913E071-10980
chr1203305067203305192E071-10701
chr1203305296203305774E071-10119
chr1203309001203309591E071-6302
chr1203309745203309811E071-6082
chr1203311506203312080E071-3813
chr1203312124203312228E071-3665
chr1203318752203318804E0712859
chr1203318893203318978E0713000
chr1203319095203319238E0713202
chr1203319270203319360E0713377
chr1203319399203319578E0713506
chr1203323303203323701E0717410
chr1203335687203335956E07119794
chr1203336296203336499E07120403
chr1203336577203336666E07120684
chr1203336687203336737E07120794
chr1203336819203336892E07120926
chr1203348419203348794E07132526
chr1203348823203349006E07132930
chr1203349016203349257E07133123
chr1203273078203273533E072-42360
chr1203289549203290773E072-25120
chr1203290990203291040E072-24853
chr1203291068203291178E072-24715
chr1203291311203291729E072-24164
chr1203291757203292368E072-23525
chr1203292380203292547E072-23346
chr1203292553203292734E072-23159
chr1203292748203295313E072-20580
chr1203295315203295526E072-20367
chr1203295565203295728E072-20165
chr1203318752203318804E0722859
chr1203318893203318978E0723000
chr1203319095203319238E0723202
chr1203319270203319360E0723377
chr1203319399203319578E0723506
chr1203323303203323701E0727410
chr1203335687203335956E07219794
chr1203336296203336499E07220403
chr1203336577203336666E07220684
chr1203336687203336737E07220794
chr1203336819203336892E07220926
chr1203348823203349006E07232930
chr1203349016203349257E07233123
chr1203349476203349567E07233583
chr1203349673203349723E07233780
chr1203349739203349793E07233846
chr1203350175203350586E07234282
chr1203273078203273533E073-42360
chr1203289549203290773E073-25120
chr1203290990203291040E073-24853
chr1203291068203291178E073-24715
chr1203291311203291729E073-24164
chr1203291757203292368E073-23525
chr1203292380203292547E073-23346
chr1203292553203292734E073-23159
chr1203292748203295313E073-20580
chr1203295315203295526E073-20367
chr1203295565203295728E073-20165
chr1203307632203308073E073-7820
chr1203308074203308191E073-7702
chr1203311253203311484E073-4409
chr1203311506203312080E073-3813
chr1203328427203328521E07312534
chr1203329817203330224E07313924
chr1203331091203331568E07315198
chr1203336296203336499E07320403
chr1203336577203336666E07320684
chr1203336687203336737E07320794
chr1203336819203336892E07320926
chr1203347712203348297E07331819
chr1203348419203348794E07332526
chr1203348823203349006E07332930
chr1203349016203349257E07333123
chr1203349798203350102E07333905
chr1203289549203290773E074-25120
chr1203290990203291040E074-24853
chr1203291068203291178E074-24715
chr1203291311203291729E074-24164
chr1203291757203292368E074-23525
chr1203292380203292547E074-23346
chr1203292553203292734E074-23159
chr1203292748203295313E074-20580
chr1203295315203295526E074-20367
chr1203295565203295728E074-20165
chr1203307632203308073E074-7820
chr1203308074203308191E074-7702
chr1203308447203308566E074-7327
chr1203308668203308827E074-7066
chr1203309001203309591E074-6302
chr1203309745203309811E074-6082
chr1203309883203309935E074-5958
chr1203311253203311484E074-4409
chr1203311506203312080E074-3813
chr1203319270203319360E0743377
chr1203319399203319578E0743506
chr1203335687203335956E07419794
chr1203336296203336499E07420403
chr1203336577203336666E07420684
chr1203336687203336737E07420794
chr1203336819203336892E07420926
chr1203276658203280005E081-35888
chr1203289325203289510E081-26383
chr1203289549203290773E081-25120
chr1203290990203291040E081-24853
chr1203292748203295313E081-20580
chr1203295315203295526E081-20367
chr1203295565203295728E081-20165
chr1203309001203309591E081-6302
chr1203309745203309811E081-6082
chr1203309883203309935E081-5958
chr1203310082203310132E081-5761
chr1203310717203310767E081-5126
chr1203311506203312080E081-3813
chr1203312124203312228E081-3665
chr1203329817203330224E08113924
chr1203331091203331568E08115198
chr1203333343203334303E08117450
chr1203347712203348297E08131819
chr1203348419203348794E08132526
chr1203348823203349006E08132930
chr1203349016203349257E08133123
chr1203266062203266123E082-49770
chr1203266168203266258E082-49635
chr1203266313203266402E082-49491
chr1203292748203295313E082-20580
chr1203295315203295526E082-20367
chr1203295565203295728E082-20165
chr1203299413203299513E082-16380
chr1203308668203308827E082-7066
chr1203309001203309591E082-6302
chr1203311253203311484E082-4409
chr1203311506203312080E082-3813
chr1203328427203328521E08212534
chr1203329817203330224E08213924
chr1203331091203331568E08215198
chr1203333343203334303E08217450










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1203273554203276656E067-39237
chr1203273554203276656E068-39237
chr1203273554203276656E069-39237
chr1203273554203276656E070-39237
chr1203273554203276656E071-39237
chr1203273554203276656E072-39237
chr1203273554203276656E073-39237
chr1203273554203276656E074-39237
chr1203273554203276656E082-39237