rs2980103

Homo sapiens
A>G
TMEM128 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0418 (12530/29916,GnomAD)
G=0464 (13531/29118,TOPMED)
G=0477 (2387/5008,1000G)
G=0383 (1477/3854,ALSPAC)
G=0374 (1386/3708,TWINSUK)
chr4:4244013 (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.4244013A>G
GRCh37.p13 chr 4NC_000004.11:g.4245740A>G

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
1000GenomesAfricanSub1322A=0.424G=0.576
1000GenomesAmericanSub694A=0.490G=0.510
1000GenomesEast AsianSub1008A=0.563G=0.437
1000GenomesEuropeSub1006A=0.656G=0.344
1000GenomesGlobalStudy-wide5008A=0.523G=0.477
1000GenomesSouth AsianSub978A=0.500G=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.617G=0.383
The Genome Aggregation DatabaseAfricanSub8706A=0.456G=0.544
The Genome Aggregation DatabaseAmericanSub838A=0.470G=0.530
The Genome Aggregation DatabaseEast AsianSub1618A=0.494G=0.506
The Genome Aggregation DatabaseEuropeSub18452A=0.652G=0.347
The Genome Aggregation DatabaseGlobalStudy-wide29916A=0.581G=0.418
The Genome Aggregation DatabaseOtherSub302A=0.570G=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.535G=0.464
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.626G=0.374
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
rs29801030.00098alcohol dependence20201924

eQTL of rs2980103 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:4245740TMEM128ENSG00000132406.7A>G1.3235e-7-4210Cerebellum

meQTL of rs2980103 in Fetal Brain

Probe ID Position Gene beta p-value
cg14389535chr4:4246507TMEM128-0.05372112229891922.6483e-22

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 )
chr442565444256612E06710804
chr442573104257381E06711570
chr442933474293393E06747607
chr442413284241612E068-4128
chr442416934241765E068-3975
chr442565444256612E06810804
chr442613234261467E06815583
chr442933474293393E06847607
chr442413284241612E069-4128
chr442416934241765E069-3975
chr442565444256612E06910804
chr442573104257381E06911570
chr442613234261467E06915583
chr442933474293393E06947607
chr442565444256612E07010804
chr442573104257381E07011570
chr442565444256612E07110804
chr442573104257381E07111570
chr442904694290523E07144729
chr442933474293393E07147607
chr442565444256612E07210804
chr442573104257381E07211570
chr442613234261467E07215583
chr442565444256612E07410804
chr442573104257381E07411570
chr442613234261467E07415583
chr442616194261838E07415879
chr442513754251455E0815635
chr442933474293393E08147607








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr442492434251277E0673503
chr442912874291341E06745547
chr442914034292663E06745663
chr442492434251277E0683503
chr442912874291341E06845547
chr442914034292663E06845663
chr442492434251277E0693503
chr442912874291341E06945547
chr442914034292663E06945663
chr442492434251277E0703503
chr442912874291341E07045547
chr442914034292663E07045663
chr442492434251277E0713503
chr442912874291341E07145547
chr442914034292663E07145663
chr442492434251277E0723503
chr442912874291341E07245547
chr442914034292663E07245663
chr442492434251277E0733503
chr442912874291341E07345547
chr442914034292663E07345663
chr442492434251277E0743503
chr442912874291341E07445547
chr442914034292663E07445663
chr442492434251277E0813503
chr442912874291341E08145547
chr442914034292663E08145663
chr442492434251277E0823503
chr442912874291341E08245547
chr442914034292663E08245663