rs2916468

Homo sapiens
T>C
TMEM128 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0409 (49461/120924,ExAC)
C=0401 (11942/29784,GnomAD)
C=0445 (12977/29118,TOPMED)
T==0413 (5373/13006,GO-ESP)
C=0456 (2286/5008,1000G)
C=0382 (1471/3854,ALSPAC)
C=0370 (1373/3708,TWINSUK)
chr4:4247573 (GRCh38.p7) (4p16.3)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.4247573T>C
GRCh37.p13 chr 4NC_000004.11:g.4249300T>C

Gene: TMEM128, transmembrane protein 128(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM128 transcript variant 1NM_001297551.1:c.N/AIntron Variant
TMEM128 transcript variant 2NM_001297552.1:c.N/AIntron Variant
TMEM128 transcript variant 3NM_032927.3:c.N/AIntron Variant
TMEM128 transcript variant X1XM_005248034.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.474C=0.526
1000GenomesAmericanSub694T=0.500C=0.500
1000GenomesEast AsianSub1008T=0.579C=0.421
1000GenomesEuropeSub1006T=0.656C=0.344
1000GenomesGlobalStudy-wide5008T=0.544C=0.456
1000GenomesSouth AsianSub978T=0.520C=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.618C=0.382
The Exome Aggregation ConsortiumAmericanSub21896T=0.495C=0.504
The Exome Aggregation ConsortiumAsianSub25078T=0.543C=0.456
The Exome Aggregation ConsortiumEuropeSub73042T=0.635C=0.364
The Exome Aggregation ConsortiumGlobalStudy-wide120924T=0.590C=0.409
The Exome Aggregation ConsortiumOtherSub908T=0.610C=0.390
The Genome Aggregation DatabaseAfricanSub8642T=0.504C=0.496
The Genome Aggregation DatabaseAmericanSub830T=0.480C=0.520
The Genome Aggregation DatabaseEast AsianSub1604T=0.524C=0.476
The Genome Aggregation DatabaseEuropeSub18408T=0.655C=0.344
The Genome Aggregation DatabaseGlobalStudy-wide29784T=0.599C=0.401
The Genome Aggregation DatabaseOtherSub300T=0.590C=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.554C=0.445
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.630C=0.370
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs29164680.00071alcohol dependence20201924

eQTL of rs2916468 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:4249300TMEM128ENSG00000132406.7T>C1.3235e-7-650Cerebellum
Chr4:4249300TMEM128ENSG00000132406.7T>C4.5287e-4-650Cerebellar_Hemisphere

meQTL of rs2916468 in Fetal Brain

Probe ID Position Gene beta p-value
cg14389535chr4:4246507TMEM128-0.05341799362307029.7529e-23

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 )
chr442565444256612E0677244
chr442573104257381E0678010
chr442933474293393E06744047
chr442413284241612E068-7688
chr442416934241765E068-7535
chr442565444256612E0687244
chr442613234261467E06812023
chr442933474293393E06844047
chr442413284241612E069-7688
chr442416934241765E069-7535
chr442565444256612E0697244
chr442573104257381E0698010
chr442613234261467E06912023
chr442933474293393E06944047
chr442565444256612E0707244
chr442573104257381E0708010
chr442565444256612E0717244
chr442573104257381E0718010
chr442904694290523E07141169
chr442933474293393E07144047
chr442565444256612E0727244
chr442573104257381E0728010
chr442613234261467E07212023
chr442565444256612E0747244
chr442573104257381E0748010
chr442613234261467E07412023
chr442616194261838E07412319
chr442513754251455E0812075
chr442933474293393E08144047








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr442492434251277E0670
chr442912874291341E06741987
chr442914034292663E06742103
chr442492434251277E0680
chr442912874291341E06841987
chr442914034292663E06842103
chr442492434251277E0690
chr442912874291341E06941987
chr442914034292663E06942103
chr442492434251277E0700
chr442912874291341E07041987
chr442914034292663E07042103
chr442492434251277E0710
chr442912874291341E07141987
chr442914034292663E07142103
chr442492434251277E0720
chr442912874291341E07241987
chr442914034292663E07242103
chr442492434251277E0730
chr442912874291341E07341987
chr442914034292663E07342103
chr442492434251277E0740
chr442912874291341E07441987
chr442914034292663E07442103
chr442492434251277E0810
chr442912874291341E08141987
chr442914034292663E08142103
chr442492434251277E0820
chr442912874291341E08241987
chr442914034292663E08242103