rs1875053

Homo sapiens
C>T
SPTB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0206 (6182/29908,GnomAD)
T=0242 (7068/29118,TOPMED)
T=0215 (1079/5008,1000G)
T=0170 (656/3854,ALSPAC)
T=0159 (591/3708,TWINSUK)
chr14:64788300 (GRCh38.p7) (14q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
153 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.64788300C>T
GRCh37.p13 chr 14NC_000014.8:g.65255018C>T
SPTB RefSeqGeneNG_016202.1:g.39849G>A

Gene: SPTB, spectrin beta, erythrocytic(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SPTB transcript variant 2NM_000347.5:c.N/AIntron Variant
Protein-coding transcriptsNM_001024858.2:c.N/AIntron Variant
SPTB transcript variant X1XM_005268023.4:c.N/AIntron Variant
SPTB transcript variant X5XM_011537105.2:c.N/AIntron Variant
SPTB transcript variant X2XM_017021612.1:c.N/AIntron Variant
SPTB transcript variant X3XM_017021613.1:c.N/AIntron Variant
SPTB transcript variant X4XM_017021614.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.635T=0.365
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.898T=0.102
1000GenomesEuropeSub1006C=0.831T=0.169
1000GenomesGlobalStudy-wide5008C=0.785T=0.215
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.830T=0.170
The Genome Aggregation DatabaseAfricanSub8698C=0.678T=0.322
The Genome Aggregation DatabaseAmericanSub836C=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1616C=0.923T=0.077
The Genome Aggregation DatabaseEuropeSub18456C=0.831T=0.168
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.793T=0.206
The Genome Aggregation DatabaseOtherSub302C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.757T=0.242
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.841T=0.159
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
rs18750530.000555alcohol consumption (maxi-drinks)24277619

eQTL of rs1875053 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr14:65255018PLEKHG3ENSG00000126822.11C>T3.9379e-384198Cerebellar_Hemisphere

meQTL of rs1875053 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 )
chr146521224865212782E067-42236
chr146521278765212979E067-42039
chr146521313365213257E067-41761
chr146521331965213430E067-41588
chr146521350265213612E067-41406
chr146521372165213981E067-41037
chr146521407565214218E067-40800
chr146521428165214381E067-40637
chr146522438865226559E067-28459
chr146522675965227406E067-27612
chr146522742765227546E067-27472
chr146522754865227604E067-27414
chr146522763265227791E067-27227
chr146522779965227919E067-27099
chr146522792765228020E067-26998
chr146522808465230030E067-24988
chr146523003465232379E067-22639
chr146528954865289602E06734530
chr146521224865212782E068-42236
chr146521278765212979E068-42039
chr146521313365213257E068-41761
chr146521331965213430E068-41588
chr146521350265213612E068-41406
chr146521372165213981E068-41037
chr146521407565214218E068-40800
chr146522438865226559E068-28459
chr146522754865227604E068-27414
chr146522763265227791E068-27227
chr146522779965227919E068-27099
chr146522792765228020E068-26998
chr146522808465230030E068-24988
chr146523003465232379E068-22639
chr146521186665211920E069-43098
chr146521197865212159E069-42859
chr146521224865212782E069-42236
chr146521278765212979E069-42039
chr146521313365213257E069-41761
chr146521331965213430E069-41588
chr146521350265213612E069-41406
chr146521372165213981E069-41037
chr146521407565214218E069-40800
chr146521428165214381E069-40637
chr146521440965214468E069-40550
chr146521452665214611E069-40407
chr146521464565214711E069-40307
chr146521473865214835E069-40183
chr146522438865226559E069-28459
chr146522664065226750E069-28268
chr146522675965227406E069-27612
chr146522742765227546E069-27472
chr146522754865227604E069-27414
chr146522763265227791E069-27227
chr146522779965227919E069-27099
chr146522792765228020E069-26998
chr146522808465230030E069-24988
chr146523003465232379E069-22639
chr146528965665290712E06934638
chr146522675965227406E070-27612
chr146522742765227546E070-27472
chr146522754865227604E070-27414
chr146522763265227791E070-27227
chr146522779965227919E070-27099
chr146522792765228020E070-26998
chr146522808465230030E070-24988
chr146523003465232379E070-22639
chr146521197865212159E071-42859
chr146521224865212782E071-42236
chr146521278765212979E071-42039
chr146521313365213257E071-41761
chr146521331965213430E071-41588
chr146521350265213612E071-41406
chr146521372165213981E071-41037
chr146521491965215040E071-39978
chr146521507965215124E071-39894
chr146521514565215198E071-39820
chr146521521665215266E071-39752
chr146521532665215452E071-39566
chr146521550265215580E071-39438
chr146522438865226559E071-28459
chr146522664065226750E071-28268
chr146522675965227406E071-27612
chr146522742765227546E071-27472
chr146522754865227604E071-27414
chr146522763265227791E071-27227
chr146522779965227919E071-27099
chr146522792765228020E071-26998
chr146522808465230030E071-24988
chr146523003465232379E071-22639
chr146521224865212782E072-42236
chr146521278765212979E072-42039
chr146521313365213257E072-41761
chr146521331965213430E072-41588
chr146521350265213612E072-41406
chr146521372165213981E072-41037
chr146521407565214218E072-40800
chr146521428165214381E072-40637
chr146522438865226559E072-28459
chr146522664065226750E072-28268
chr146522675965227406E072-27612
chr146522742765227546E072-27472
chr146522754865227604E072-27414
chr146522763265227791E072-27227
chr146522779965227919E072-27099
chr146522792765228020E072-26998
chr146522808465230030E072-24988
chr146523003465232379E072-22639
chr146521186665211920E073-43098
chr146521197865212159E073-42859
chr146521224865212782E073-42236
chr146521278765212979E073-42039
chr146521313365213257E073-41761
chr146521331965213430E073-41588
chr146521350265213612E073-41406
chr146521372165213981E073-41037
chr146521407565214218E073-40800
chr146522438865226559E073-28459
chr146522664065226750E073-28268
chr146522675965227406E073-27612
chr146522742765227546E073-27472
chr146522754865227604E073-27414
chr146522763265227791E073-27227
chr146522779965227919E073-27099
chr146522792765228020E073-26998
chr146522808465230030E073-24988
chr146523003465232379E073-22639
chr146528954865289602E07334530
chr146528965665290712E07334638
chr146521133365211373E074-43645
chr146521176065211800E074-43218
chr146521186665211920E074-43098
chr146521197865212159E074-42859
chr146521224865212782E074-42236
chr146521278765212979E074-42039
chr146521313365213257E074-41761
chr146521331965213430E074-41588
chr146521350265213612E074-41406
chr146521372165213981E074-41037
chr146521407565214218E074-40800
chr146521428165214381E074-40637
chr146522438865226559E074-28459
chr146522742765227546E074-27472
chr146522754865227604E074-27414
chr146522763265227791E074-27227
chr146522779965227919E074-27099
chr146522792765228020E074-26998
chr146522808465230030E074-24988
chr146523003465232379E074-22639
chr146528954865289602E07434530
chr146528965665290712E07434638
chr146522792765228020E081-26998
chr146522808465230030E081-24988
chr146523003465232379E081-22639
chr146522808465230030E082-24988