rs6446414

Homo sapiens
T>A / T>C
C4orf50 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0328 (9831/29930,GnomAD)
T==0328 (9571/29118,TOPMED)
T==0452 (2266/5008,1000G)
chr4:5962618 (GRCh38.p7) (4p16.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.5962618T>A
GRCh38.p7 chr 4NC_000004.12:g.5962618T>C
GRCh37.p13 chr 4NC_000004.11:g.5964345T>A
GRCh37.p13 chr 4NC_000004.11:g.5964345T>C

Gene: C4orf50, uncharacterized C4orf50(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C4orf50 transcript variant X6XM_011513603.2:c.N/AIntron Variant
C4orf50 transcript variant X5XM_011513604.2:c.N/AIntron Variant
C4orf50 transcript variant X1XM_017008891.1:c.N/AIntron Variant
C4orf50 transcript variant X2XM_017008892.1:c.N/AIntron Variant
C4orf50 transcript variant X3XM_017008893.1:c.N/AIntron Variant
C4orf50 transcript variant X4XM_017008894.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.250C=0.750
1000GenomesAmericanSub694T=0.380C=0.620
1000GenomesEast AsianSub1008T=0.854C=0.146
1000GenomesEuropeSub1006T=0.318C=0.682
1000GenomesGlobalStudy-wide5008T=0.452C=0.548
1000GenomesSouth AsianSub978T=0.500C=0.500
The Genome Aggregation DatabaseAfricanSub8708T=0.267C=0.733
The Genome Aggregation DatabaseAmericanSub838T=0.390C=0.610
The Genome Aggregation DatabaseEast AsianSub1622T=0.884C=0.116
The Genome Aggregation DatabaseEuropeSub18460T=0.306C=0.693
The Genome Aggregation DatabaseGlobalStudy-wide29930T=0.328C=0.671
The Genome Aggregation DatabaseOtherSub302T=0.310C=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.328C=0.671
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
rs64464140.000244alcohol dependence24277619

eQTL of rs6446414 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 rs6446414 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.