rs4463305

Homo sapiens
T>C
GMDS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0104 (3139/29986,GnomAD)
C=0096 (2805/29118,TOPMED)
C=0120 (601/5008,1000G)
C=0127 (489/3854,ALSPAC)
C=0125 (462/3708,TWINSUK)
chr6:1918338 (GRCh38.p7) (6p25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
64 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.1918338T>C
GRCh37.p13 chr 6NC_000006.11:g.1918572T>C

Gene: GMDS, GDP-mannose 4,6-dehydratase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GMDS transcript variant 2NM_001253846.1:c.N/AIntron Variant
GMDS transcript variant 1NM_001500.3:c.N/AIntron Variant
GMDS transcript variant X4XM_006715066.2:c.N/AIntron Variant
GMDS transcript variant X1XM_011514500.1:c.N/AIntron Variant
GMDS transcript variant X3XM_011514502.2:c.N/AIntron Variant
GMDS transcript variant X10XM_011514507.1:c.N/AIntron Variant
GMDS transcript variant X6XM_017010752.1:c.N/AIntron Variant
GMDS transcript variant X7XM_011514503.2:c.N/AGenic Downstream Transcript Variant
GMDS transcript variant X8XM_011514505.1:c.N/AGenic Downstream Transcript Variant
GMDS transcript variant X9XM_011514506.1:c.N/AGenic Downstream Transcript Variant
GMDS transcript variant X2XR_001743349.1:n.N/AIntron Variant
GMDS transcript variant X5XR_001743350.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.940C=0.060
1000GenomesAmericanSub694T=0.890C=0.110
1000GenomesEast AsianSub1008T=0.827C=0.173
1000GenomesEuropeSub1006T=0.886C=0.114
1000GenomesGlobalStudy-wide5008T=0.880C=0.120
1000GenomesSouth AsianSub978T=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.873C=0.127
The Genome Aggregation DatabaseAfricanSub8728T=0.928C=0.072
The Genome Aggregation DatabaseAmericanSub838T=0.900C=0.100
The Genome Aggregation DatabaseEast AsianSub1618T=0.849C=0.151
The Genome Aggregation DatabaseEuropeSub18500T=0.883C=0.116
The Genome Aggregation DatabaseGlobalStudy-wide29986T=0.895C=0.104
The Genome Aggregation DatabaseOtherSub302T=0.900C=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.903C=0.096
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.875C=0.125
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs44633050.000319alcohol dependence21314694

eQTL of rs4463305 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 rs4463305 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 )
chr618723181872517E067-46055
chr618726921873351E067-45221
chr618734971873621E067-44951
chr619156541915779E067-2793
chr619159041915968E067-2604
chr619163881916442E067-2130
chr619167241917548E067-1024
chr618723181872517E068-46055
chr618726921873351E068-45221
chr618734971873621E068-44951
chr618736841873751E068-44821
chr619163881916442E068-2130
chr618726921873351E069-45221
chr618734971873621E069-44951
chr618736841873751E069-44821
chr619159041915968E069-2604
chr619163881916442E069-2130
chr619167241917548E069-1024
chr619498271950150E06931255
chr618718961872234E070-46338
chr618723181872517E070-46055
chr618726921873351E070-45221
chr619156541915779E070-2793
chr619159041915968E070-2604
chr619163881916442E070-2130
chr619167241917548E070-1024
chr619301041930154E07011532
chr619303291930403E07011757
chr619307031930806E07012131
chr619309131931089E07012341
chr618718961872234E071-46338
chr618726921873351E071-45221
chr618734971873621E071-44951
chr618736841873751E071-44821
chr619163881916442E071-2130
chr619167241917548E071-1024
chr618723181872517E072-46055
chr618726921873351E072-45221
chr618734971873621E072-44951
chr618736841873751E072-44821
chr618739691874316E072-44256
chr618771461877229E072-41343
chr619156541915779E072-2793
chr619159041915968E072-2604
chr619163881916442E072-2130
chr619167241917548E072-1024
chr619498271950150E07231255
chr618718961872234E073-46338
chr618723181872517E073-46055
chr618726921873351E073-45221
chr618734971873621E073-44951
chr618736841873751E073-44821
chr618739691874316E073-44256
chr618726921873351E074-45221
chr618734971873621E074-44951
chr619156541915779E074-2793
chr619159041915968E074-2604
chr619163881916442E074-2130
chr619167241917548E074-1024
chr619498271950150E07431255
chr618723181872517E081-46055
chr618726921873351E081-45221
chr618734971873621E081-44951
chr618726921873351E082-45221