rs79978308

Homo sapiens
C>G / C>T
B3GALT5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0033 (1011/29950,GnomAD)
T=0021 (616/29118,TOPMED)
T=0009 (46/5008,1000G)
T=0036 (139/3854,ALSPAC)
T=0040 (147/3708,TWINSUK)
chr21:39648618 (GRCh38.p7) (21q22.2)
AD
GWASCatalog
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.39648618C>G
GRCh38.p7 chr 21NC_000021.9:g.39648618C>T
GRCh37.p13 chr 21NC_000021.8:g.41020545C>G
GRCh37.p13 chr 21NC_000021.8:g.41020545C>T

Gene: B3GALT5, beta-1,3-galactosyltransferase 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
B3GALT5 transcript variant 6NM_001278650.1:c.N/AIntron Variant
B3GALT5 transcript variant 1NM_006057.2:c.N/AGenic Upstream Transcript Variant
B3GALT5 transcript variant 2NM_033170.2:c.N/AGenic Upstream Transcript Variant
B3GALT5 transcript variant 3NM_033171.2:c.N/AGenic Upstream Transcript Variant
B3GALT5 transcript variant 4NM_033172.2:c.N/AGenic Upstream Transcript Variant
B3GALT5 transcript variant X1XM_017028227.1:c.N/AIntron Variant
B3GALT5 transcript variant X2XM_017028228.1:c.N/AIntron Variant
B3GALT5 transcript variant X3XM_017028229.1:c.N/AIntron Variant
B3GALT5 transcript variant X4XM_017028230.1:c.N/AIntron Variant
B3GALT5 transcript variant X5XM_017028231.1:c.N/AIntron Variant
B3GALT5 transcript variant X6XM_017028232.1:c.N/AIntron Variant
B3GALT5 transcript variant X7XM_017028233.1:c.N/AIntron Variant
B3GALT5 transcript variant X8XM_017028234.1:c.N/AIntron Variant
B3GALT5 transcript variant X9XM_017028235.1:c.N/AIntron Variant
B3GALT5 transcript variant X10XM_017028236.1:c.N/AIntron Variant
B3GALT5 transcript variant X11XM_017028237.1:c.N/AIntron Variant
B3GALT5 transcript variant X12XM_017028238.1:c.N/AIntron Variant
B3GALT5 transcript variant X13XM_017028239.1:c.N/AIntron Variant
B3GALT5 transcript variant X14XM_017028240.1:c.N/AIntron Variant
B3GALT5 transcript variant X15XM_017028241.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.999T=0.001
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.963T=0.037
1000GenomesGlobalStudy-wide5008C=0.991T=0.009
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.964T=0.036
The Genome Aggregation DatabaseAfricanSub8718C=0.993T=0.007
The Genome Aggregation DatabaseAmericanSub838C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18470C=0.949T=0.050
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.966T=0.033
The Genome Aggregation DatabaseOtherSub302C=0.980T=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.978T=0.021
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.960T=0.040
PMID Title Author Journal
26365420The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.Mbarek HAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs799783085E-06alcohol dependence26365420

eQTL of rs79978308 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 rs79978308 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.