rs451041

Homo sapiens
A>C / A>G
CARS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0493 (14742/29890,GnomAD)
A==0474 (13813/29118,TOPMED)
A==0436 (2183/5008,1000G)
G=0492 (1897/3854,ALSPAC)
G=0486 (1803/3708,TWINSUK)
chr11:3039495 (GRCh38.p7) (11p15.4)
AD
GWASdb2
13   publication(s)
See rs on genome
266 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.3039495A>C
GRCh38.p7 chr 11NC_000011.10:g.3039495A>G
GRCh37.p13 chr 11NC_000011.9:g.3060725A>C
GRCh37.p13 chr 11NC_000011.9:g.3060725A>G
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7NT_187585.1:g.270520G>A
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7NT_187585.1:g.270520G>C

Gene: CARS, cysteinyl-tRNA synthetase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CARS transcript variant 3NM_001014437.2:c.N/AIntron Variant
CARS transcript variant 5NM_001194997.1:c.N/AIntron Variant
CARS transcript variant 2NM_001751.5:c.N/AIntron Variant
CARS transcript variant 1NM_139273.3:c.N/AIntron Variant
CARS transcript variant 4NR_036542.1:n.N/AIntron Variant
CARS transcript variant X8XM_006718341.3:c.N/AIntron Variant
CARS transcript variant X9XM_017018389.1:c.N/AIntron Variant
CARS transcript variant X10XM_017018390.1:c.N/AIntron Variant
CARS transcript variant X15XM_017018391.1:c.N/AIntron Variant
CARS transcript variant X12XM_017018392.1:c.N/AIntron Variant
CARS transcript variant X6XR_001747995.1:n.N/AIntron Variant
CARS transcript variant X7XR_001747996.1:n.N/AIntron Variant
CARS transcript variant X14XR_001747997.1:n.N/AIntron Variant
CARS transcript variant X17XR_001747998.1:n.N/AIntron Variant
CARS transcript variant X1XR_428857.1:n.N/AIntron Variant
CARS transcript variant X7XR_930913.1:n.N/AIntron Variant
CARS transcript variant X16XR_930914.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.465G=0.535
1000GenomesAmericanSub694A=0.390G=0.610
1000GenomesEast AsianSub1008A=0.294G=0.706
1000GenomesEuropeSub1006A=0.509G=0.491
1000GenomesGlobalStudy-wide5008A=0.436G=0.564
1000GenomesSouth AsianSub978A=0.500G=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.508G=0.492
The Genome Aggregation DatabaseAfricanSub8706A=0.495G=0.505
The Genome Aggregation DatabaseAmericanSub834A=0.360G=0.64,
The Genome Aggregation DatabaseEast AsianSub1616A=0.332G=0.668
The Genome Aggregation DatabaseEuropeSub18434A=0.534G=0.465
The Genome Aggregation DatabaseGlobalStudy-wide29890A=0.506G=0.493
The Genome Aggregation DatabaseOtherSub300A=0.480G=0.52,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.474G=0.525
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.514G=0.486
PMID Title Author Journal
21412220An intergenic region on chromosome 13q33.3 is associated with the susceptibility to kidney disease in type 1 and 2 diabetes.Pezzolesi MGKidney Int
26753002rs1888747 polymorphism in the FRMD3 gene, gene and protein expression: role in diabetic kidney disease.Buffon MPDiabetol Metab Syndr
20347642Insights to the genetics of diabetic nephropathy through a genome-wide association study of the GoKinD collection.Pezzolesi MGSemin Nephrol
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
25393876Identification of allelic heterogeneity at type-2 diabetes loci and impact on prediction.Klimentidis YCPLoS One
20460425Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes.Maeda SDiabetes
20835900Genetics of diabetes complications.Doria ACurr Diab Rep
21127830Genetic associations in diabetic nephropathy: a meta-analysis.Mooyaart ALDiabetologia
19252134Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes.Pezzolesi MGDiabetes
20306291A three-stage genome-wide association study of general cognitive ability: hunting the small effects.Davis OSBehav Genet
21911749CPVL/CHN2 genetic variant is associated with diabetic retinopathy in Chinese type 2 diabetic patients.Hu CDiabetes
27042264Genetics of cardiovascular and renal complications in diabetes.Ma RCJ Diabetes Investig
19959718Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.Cordell HJJ Am Soc Nephrol

P-Value

SNP ID p-value Traits Study
rs4510410.00011alcohol dependence(early age of onset)20201924
rs4510410.00038alcohol dependence20201924

eQTL of rs451041 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr11:3060725AC131971.1ENSG00000183562.2A>G7.8031e-449632Cortex

meQTL of rs451041 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 )
chr1131441443145038E067-41905
chr1131450483146254E067-40689
chr1131478113148090E067-38853
chr1131481113148155E067-38788
chr1131518283152492E067-34451
chr1131738063173864E067-13079
chr1131738943174045E067-12898
chr1131740723174301E067-12642
chr1131743303174436E067-12507
chr1131744493175228E067-11715
chr1131752843175876E067-11067
chr1131759353175985E067-10958
chr1131762513176462E067-10481
chr1131764893176657E067-10286
chr1131801633180261E067-6682
chr1131802853180335E067-6608
chr1131803683180449E067-6494
chr1131804573180564E067-6379
chr1131805693180871E067-6072
chr1131831883183263E067-3680
chr1131608293161116E068-25827
chr1131738943174045E068-12898
chr1131740723174301E068-12642
chr1131743303174436E068-12507
chr1131744493175228E068-11715
chr1131752843175876E068-11067
chr1131759353175985E068-10958
chr1131762513176462E068-10481
chr1131764893176657E068-10286
chr1131805693180871E068-6072
chr1131831883183263E068-3680
chr1131833793183684E068-3259
chr1131845543184713E068-2230
chr1131441443145038E069-41905
chr1131450483146254E069-40689
chr1131463033146386E069-40557
chr1131478113148090E069-38853
chr1131603173160743E069-26200
chr1131608293161116E069-25827
chr1131611433161193E069-25750
chr1131615993161661E069-25282
chr1131662553166447E069-20496
chr1131664603166647E069-20296
chr1131667223166762E069-20181
chr1131667953166884E069-20059
chr1131689243169051E069-17892
chr1131690993169197E069-17746
chr1131693263169807E069-17136
chr1131712793171471E069-15472
chr1131715813171734E069-15209
chr1131738063173864E069-13079
chr1131738943174045E069-12898
chr1131740723174301E069-12642
chr1131743303174436E069-12507
chr1131744493175228E069-11715
chr1131752843175876E069-11067
chr1131759353175985E069-10958
chr1131762513176462E069-10481
chr1131764893176657E069-10286
chr1131790463179152E069-7791
chr1131803683180449E069-6494
chr1131804573180564E069-6379
chr1131805693180871E069-6072
chr1131831883183263E069-3680
chr1131833793183684E069-3259
chr1131915183191758E0694575
chr1131438543144085E070-42858
chr1131441443145038E070-41905
chr1131450483146254E070-40689
chr1131738943174045E070-12898
chr1131740723174301E070-12642
chr1131743303174436E070-12507
chr1131744493175228E070-11715
chr1131752843175876E070-11067
chr1131762513176462E070-10481
chr1131764893176657E070-10286
chr1131768993178107E070-8836
chr1131801633180261E070-6682
chr1131802853180335E070-6608
chr1131803683180449E070-6494
chr1131804573180564E070-6379
chr1131921863192274E0705243
chr1131441443145038E071-41905
chr1131450483146254E071-40689
chr1131463033146386E071-40557
chr1131566543156798E071-30145
chr1131568683157474E071-29469
chr1131574773157742E071-29201
chr1131577443158154E071-28789
chr1131581893158265E071-28678
chr1131603173160743E071-26200
chr1131608293161116E071-25827
chr1131611433161193E071-25750
chr1131677003167805E071-19138
chr1131678953168002E071-18941
chr1131680593168906E071-18037
chr1131689243169051E071-17892
chr1131690993169197E071-17746
chr1131730453173105E071-13838
chr1131731303173198E071-13745
chr1131732273173267E071-13676
chr1131734003173540E071-13403
chr1131738063173864E071-13079
chr1131738943174045E071-12898
chr1131740723174301E071-12642
chr1131743303174436E071-12507
chr1131744493175228E071-11715
chr1131752843175876E071-11067
chr1131759353175985E071-10958
chr1131762513176462E071-10481
chr1131764893176657E071-10286
chr1131768993178107E071-8836
chr1131783073178559E071-8384
chr1131786063178706E071-8237
chr1131803683180449E071-6494
chr1131804573180564E071-6379
chr1131833793183684E071-3259
chr1131915183191758E0714575
chr1131438543144085E072-42858
chr1131441443145038E072-41905
chr1131450483146254E072-40689
chr1131478113148090E072-38853
chr1131481113148155E072-38788
chr1131518283152492E072-34451
chr1131574773157742E072-29201
chr1131603173160743E072-26200
chr1131608293161116E072-25827
chr1131611433161193E072-25750
chr1131662553166447E072-20496
chr1131664603166647E072-20296
chr1131667223166762E072-20181
chr1131667953166884E072-20059
chr1131669123167033E072-19910
chr1131726433172720E072-14223
chr1131729043172990E072-13953
chr1131730453173105E072-13838
chr1131731303173198E072-13745
chr1131732273173267E072-13676
chr1131734003173540E072-13403
chr1131738063173864E072-13079
chr1131738943174045E072-12898
chr1131740723174301E072-12642
chr1131743303174436E072-12507
chr1131744493175228E072-11715
chr1131752843175876E072-11067
chr1131759353175985E072-10958
chr1131762513176462E072-10481
chr1131764893176657E072-10286
chr1131768993178107E072-8836
chr1131803683180449E072-6494
chr1131804573180564E072-6379
chr1131831883183263E072-3680
chr1131915183191758E0724575
chr1131438543144085E073-42858
chr1131441443145038E073-41905
chr1131450483146254E073-40689
chr1131463033146386E073-40557
chr1131615993161661E073-25282
chr1131662553166447E073-20496
chr1131664603166647E073-20296
chr1131667223166762E073-20181
chr1131706063170660E073-16283
chr1131706983171269E073-15674
chr1131712793171471E073-15472
chr1131738063173864E073-13079
chr1131738943174045E073-12898
chr1131740723174301E073-12642
chr1131743303174436E073-12507
chr1131744493175228E073-11715
chr1131752843175876E073-11067
chr1131759353175985E073-10958
chr1131762513176462E073-10481
chr1131764893176657E073-10286
chr1131768993178107E073-8836
chr1131783073178559E073-8384
chr1131786063178706E073-8237
chr1131788243178997E073-7946
chr1131790463179152E073-7791
chr1131801633180261E073-6682
chr1131802853180335E073-6608
chr1131803683180449E073-6494
chr1131804573180564E073-6379
chr1131871233188125E073180
chr1131915183191758E0734575
chr1131450483146254E074-40689
chr1131463033146386E074-40557
chr1131738943174045E074-12898
chr1131740723174301E074-12642
chr1131743303174436E074-12507
chr1131744493175228E074-11715
chr1131752843175876E074-11067
chr1131762513176462E074-10481
chr1131764893176657E074-10286
chr1131803683180449E074-6494
chr1131804573180564E074-6379
chr1131831883183263E074-3680
chr1131839903184316E074-2627
chr1131845543184713E074-2230
chr1131428013142892E081-44051
chr1131429233143012E081-43931
chr1131430693143119E081-43824
chr1131432203143270E081-43673
chr1131435373143757E081-43186
chr1131438543144085E081-42858
chr1131441443145038E081-41905
chr1131450483146254E081-40689
chr1131463033146386E081-40557
chr1131515193151609E081-35334
chr1131517123151762E081-35181
chr1131518283152492E081-34451
chr1131537233153803E081-33140
chr1131538793154071E081-32872
chr1131541803154533E081-32410
chr1131548473155064E081-31879
chr1131603173160743E081-26200
chr1131608293161116E081-25827
chr1131712793171471E081-15472
chr1131720223172122E081-14821
chr1131738063173864E081-13079
chr1131738943174045E081-12898
chr1131740723174301E081-12642
chr1131743303174436E081-12507
chr1131744493175228E081-11715
chr1131752843175876E081-11067
chr1131762513176462E081-10481
chr1131764893176657E081-10286
chr1131768993178107E081-8836
chr1131783073178559E081-8384
chr1131803683180449E081-6494
chr1131804573180564E081-6379
chr1131805693180871E081-6072
chr1131831883183263E081-3680
chr1131833793183684E081-3259
chr1131837113183868E081-3075
chr1131839903184316E081-2627
chr1131845543184713E081-2230
chr1131871233188125E081180
chr1131881733188469E0811230
chr1131884793188676E0811536
chr1131888323189091E0811889
chr1131893653189685E0812422
chr1131428013142892E082-44051
chr1131429233143012E082-43931
chr1131430693143119E082-43824
chr1131432203143270E082-43673
chr1131435373143757E082-43186
chr1131438543144085E082-42858
chr1131450483146254E082-40689
chr1131510213151209E082-35734
chr1131512303151280E082-35663
chr1131513113151450E082-35493
chr1131515193151609E082-35334
chr1131517123151762E082-35181
chr1131518283152492E082-34451
chr1131603173160743E082-26200
chr1131608293161116E082-25827
chr1131611433161193E082-25750
chr1131743303174436E082-12507
chr1131744493175228E082-11715
chr1131752843175876E082-11067
chr1131794663179516E082-7427
chr1131801633180261E082-6682
chr1131802853180335E082-6608
chr1131871233188125E082180
chr1131881733188469E0821230
chr1131884793188676E0821536










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1131847873187101E0670
chr1131847873187101E0680
chr1131847873187101E0690
chr1131847873187101E0700
chr1132245463224813E07037603
chr1131847873187101E0710
chr1131847873187101E0720
chr1131847873187101E0730
chr1131847873187101E0740
chr1131847873187101E0820