rs4974983

Homo sapiens
A>G
TMEM156 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0183 (5506/29976,GnomAD)
A==0155 (4525/29118,TOPMED)
A==0071 (354/5008,1000G)
A==0279 (1077/3854,ALSPAC)
A==0282 (1047/3708,TWINSUK)
chr4:38969437 (GRCh38.p7) (4p14)
AD
GWASdb2
1   publication(s)
See rs on genome
110 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.38969437A>G
GRCh37.p13 chr 4NC_000004.11:g.38971057A>G

Gene: TMEM156, transmembrane protein 156(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM156 transcript variant 2NM_001303228.1:c.N/AIntron Variant
TMEM156 transcript variant 1NM_024943.2:c.N/AIntron Variant
TMEM156 transcript variant X1XM_011513749.2:c.N/AIntron Variant
TMEM156 transcript variant X2XM_011513750.2:c.N/AIntron Variant
TMEM156 transcript variant X4XM_011513753.2:c.N/AIntron Variant
TMEM156 transcript variant X6XM_011513754.2:c.N/AIntron Variant
TMEM156 transcript variant X5XM_017008629.1:c.N/AIntron Variant
TMEM156 transcript variant X5XM_005262670.3:c.N/AGenic Downstream Transcript Variant
TMEM156 transcript variant X3XM_011513751.2:c.N/AGenic Downstream Transcript Variant
TMEM156 transcript variant X4XM_011513752.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.009G=0.991
1000GenomesAmericanSub694A=0.120G=0.880
1000GenomesEast AsianSub1008A=0.000G=1.000
1000GenomesEuropeSub1006A=0.241G=0.759
1000GenomesGlobalStudy-wide5008A=0.071G=0.929
1000GenomesSouth AsianSub978A=0.020G=0.980
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.279G=0.721
The Genome Aggregation DatabaseAfricanSub8726A=0.045G=0.955
The Genome Aggregation DatabaseAmericanSub838A=0.110G=0.890
The Genome Aggregation DatabaseEast AsianSub1620A=0.000G=1.000
The Genome Aggregation DatabaseEuropeSub18490A=0.269G=0.730
The Genome Aggregation DatabaseGlobalStudy-wide29976A=0.183G=0.816
The Genome Aggregation DatabaseOtherSub302A=0.110G=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.155G=0.844
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.282G=0.718
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs49749832.41E-05alcohol consumption23953852

eQTL of rs4974983 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 rs4974983 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 )
chr43892427638924408E067-46649
chr43892546138925552E067-45505
chr43892597838926534E067-44523
chr43892663738926692E067-44365
chr43892861938928693E067-42364
chr43894867938948821E067-22236
chr43894893638948986E067-22071
chr43894910838949594E067-21463
chr43895019638950529E067-20528
chr43895093738951604E067-19453
chr43895327238953861E067-17196
chr43898579538985925E06714738
chr43898597138986301E06714914
chr43898661938986720E06715562
chr43898775338988097E06716696
chr43892597838926534E068-44523
chr43892663738926692E068-44365
chr43892728538927335E068-43722
chr43892770538927887E068-43170
chr43892861938928693E068-42364
chr43898579538985925E06814738
chr43898597138986301E06814914
chr43892546138925552E069-45505
chr43892597838926534E069-44523
chr43892663738926692E069-44365
chr43892728538927335E069-43722
chr43892770538927887E069-43170
chr43892861938928693E069-42364
chr43894824938948494E069-22563
chr43894867938948821E069-22236
chr43895019638950529E069-20528
chr43895093738951604E069-19453
chr43898579538985925E06914738
chr43898597138986301E06914914
chr43898661938986720E06915562
chr43898775338988097E06916696
chr43892597838926534E070-44523
chr43898743038987675E07016373
chr43892427638924408E071-46649
chr43892597838926534E071-44523
chr43892663738926692E071-44365
chr43892728538927335E071-43722
chr43892770538927887E071-43170
chr43892861938928693E071-42364
chr43894867938948821E071-22236
chr43894893638948986E071-22071
chr43895019638950529E071-20528
chr43895093738951604E071-19453
chr43895193638951997E071-19060
chr43895209038952183E071-18874
chr43898597138986301E07114914
chr43898661938986720E07115562
chr43892546138925552E072-45505
chr43892597838926534E072-44523
chr43892663738926692E072-44365
chr43892770538927887E072-43170
chr43892861938928693E072-42364
chr43894893638948986E072-22071
chr43894910838949594E072-21463
chr43895019638950529E072-20528
chr43895093738951604E072-19453
chr43898579538985925E07214738
chr43898597138986301E07214914
chr43892597838926534E073-44523
chr43892861938928693E073-42364
chr43892597838926534E074-44523
chr43892663738926692E074-44365
chr43892728538927335E074-43722
chr43892770538927887E074-43170
chr43892861938928693E074-42364
chr43895019638950529E074-20528
chr43892597838926534E081-44523
chr43894263538942964E081-28093
chr43894824938948494E081-22563
chr43894867938948821E081-22236
chr43894893638948986E081-22071
chr43894910838949594E081-21463
chr43895019638950529E081-20528
chr43895093738951604E081-19453
chr43895193638951997E081-19060
chr43895209038952183E081-18874
chr43895249738952685E081-18372
chr43895327238953861E081-17196
chr43895433738954421E081-16636
chr43895468038954864E081-16193
chr43898579538985925E08114738
chr43898597138986301E08114914
chr43898661938986720E08115562
chr43898698238987416E08115925
chr43898743038987675E08116373
chr43898775338988097E08116696
chr43894263538942964E082-28093
chr43894808638948140E082-22917
chr43894824938948494E082-22563
chr43894867938948821E082-22236
chr43894893638948986E082-22071
chr43894910838949594E082-21463
chr43895019638950529E082-20528
chr43895093738951604E082-19453
chr43895193638951997E082-19060
chr43895209038952183E082-18874
chr43895327238953861E082-17196
chr43895433738954421E082-16636
chr43895468038954864E082-16193
chr43896009838960482E082-10575
chr43898579538985925E08214738
chr43898597138986301E08214914
chr43898661938986720E08215562
chr43898698238987416E08215925
chr43898743038987675E08216373