rs4750099

Homo sapiens
G>A / G>T
ECHDC3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0158 (4725/29886,GnomAD)
T=0193 (966/5008,1000G)
T=0204 (785/3854,ALSPAC)
T=0206 (763/3708,TWINSUK)
chr10:11753576 (GRCh38.p7) (10p14)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.11753576G>A
GRCh38.p7 chr 10NC_000010.11:g.11753576G>T
GRCh37.p13 chr 10NC_000010.10:g.11795575G>A
GRCh37.p13 chr 10NC_000010.10:g.11795575G>T

Gene: ECHDC3, enoyl-CoA hydratase domain containing 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ECHDC3 transcriptNM_024693.4:c.N/AIntron Variant
ECHDC3 transcript variant X1XM_011519689.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.980T=0.020
1000GenomesAmericanSub694G=0.790T=0.210
1000GenomesEast AsianSub1008G=0.691T=0.309
1000GenomesEuropeSub1006G=0.789T=0.211
1000GenomesGlobalStudy-wide5008G=0.807T=0.193
1000GenomesSouth AsianSub978G=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.796T=0.204
The Genome Aggregation DatabaseAfricanSub8714G=0.954T=0.046
The Genome Aggregation DatabaseAmericanSub832G=0.770T=0.230
The Genome Aggregation DatabaseEast AsianSub1612G=0.699T=0.301
The Genome Aggregation DatabaseEuropeSub18428G=0.805T=0.194
The Genome Aggregation DatabaseGlobalStudy-wide29886G=0.841T=0.158
The Genome Aggregation DatabaseOtherSub300G=0.820T=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.794T=0.206
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
rs47500990.000487alcohol dependence21314694

eQTL of rs4750099 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 rs4750099 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.