rs1906279

Homo sapiens
T>C
RPAP2 : Intron Variant
GLMN : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0135 (4064/29970,GnomAD)
T==0116 (3402/29118,TOPMED)
T==0068 (342/5008,1000G)
T==0198 (765/3854,ALSPAC)
T==0194 (721/3708,TWINSUK)
chr1:92350591 (GRCh38.p7) (1p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92350591T>C
GRCh37.p13 chr 1NC_000001.10:g.92816148T>C

Gene: RPAP2, RNA polymerase II associated protein 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RPAP2 transcriptNM_024813.2:c.N/AIntron Variant
RPAP2 transcript variant X6XM_005271223.2:c.N/AIntron Variant
RPAP2 transcript variant X2XM_017002362.1:c.N/AIntron Variant
RPAP2 transcript variant X3XM_017002363.1:c.N/AIntron Variant
RPAP2 transcript variant X5XM_017002364.1:c.N/AIntron Variant
RPAP2 transcript variant X4XM_011542167.2:c.N/A3 Prime UTR Variant
RPAP2 transcript variant X1XR_246295.2:n.N/AIntron Variant

Gene: GLMN, glomulin, FKBP associated protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GLMN transcript variant 2NM_001319683.1:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant 1NM_053274.2:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant 3NR_135089.1:n.N/AGenic Upstream Transcript Variant
GLMN transcript variant X3XM_011540546.2:c.N/AIntron Variant
GLMN transcript variant X7XM_005270401.3:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X9XM_006710309.2:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X1XM_017000137.1:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X2XM_017000138.1:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X4XM_017000139.1:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X5XM_017000140.1:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X6XM_017000141.1:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X10XM_017000142.1:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X11XM_017000143.1:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X13XM_017000144.1:c.N/AGenic Upstream Transcript Variant
GLMN transcript variant X8XR_001736941.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.023C=0.977
1000GenomesAmericanSub694T=0.110C=0.890
1000GenomesEast AsianSub1008T=0.002C=0.998
1000GenomesEuropeSub1006T=0.194C=0.806
1000GenomesGlobalStudy-wide5008T=0.068C=0.932
1000GenomesSouth AsianSub978T=0.040C=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.198C=0.802
The Genome Aggregation DatabaseAfricanSub8728T=0.049C=0.951
The Genome Aggregation DatabaseAmericanSub838T=0.100C=0.900
The Genome Aggregation DatabaseEast AsianSub1622T=0.002C=0.998
The Genome Aggregation DatabaseEuropeSub18480T=0.190C=0.809
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.135C=0.864
The Genome Aggregation DatabaseOtherSub302T=0.090C=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.116C=0.883
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.194C=0.806
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
rs19062792.41E-05alcohol consumption23953852

eQTL of rs1906279 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:92816148RP4-621B10.8ENSG00000273487.1T>C2.7662e-4161354Frontal_Cortex_BA9

meQTL of rs1906279 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.