rs4956145

Homo sapiens
T>C
HADH : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0084 (10313/121398,ExAC)
T==0136 (4058/29846,GnomAD)
T==0172 (5033/29118,TOPMED)
C=0150 (1958/13006,GO-ESP)
T==0131 (656/5008,1000G)
T==0080 (308/3854,ALSPAC)
T==0084 (310/3708,TWINSUK)
chr4:108009883 (GRCh38.p7) (4q25)
ND
GWASdb2
2   publication(s)
See rs on genome
87 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.108009883T>C
GRCh37.p13 chr 4NC_000004.11:g.108931039T>C
HADH RefSeqGeneNG_008156.2:g.25100C>T

Gene: HADH, hydroxyacyl-CoA dehydrogenase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
HADH transcript variant 1NM_001184705.2:c....NM_001184705.2:c.257C>TP [CCT]> L [CTT]Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursorNP_001171634.2:p....NP_001171634.2:p.Pro86LeuP [Pro]> L [Leu]Missense Variant
HADH transcript variant 2NM_005327.4:c.257C>TP [CCT]> L [CTT]Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursorNP_005318.3:p.Pro...NP_005318.3:p.Pro86LeuP [Pro]> L [Leu]Missense Variant
HADH transcript variant X1XM_005262972.2:c....XM_005262972.2:c.269T>CL [CTT]> P [CCT]Coding Sequence Variant
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform X1XP_005263029.1:p....XP_005263029.1:p.Leu90ProL [Leu]> P [Pro]Missense Variant
HADH transcript variant X2XR_001741214.1:n....XR_001741214.1:n.406T>CT>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.334C=0.666
1000GenomesAmericanSub694T=0.050C=0.950
1000GenomesEast AsianSub1008T=0.024C=0.976
1000GenomesEuropeSub1006T=0.079C=0.921
1000GenomesGlobalStudy-wide5008T=0.131C=0.869
1000GenomesSouth AsianSub978T=0.080C=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.080C=0.920
The Exome Aggregation ConsortiumAmericanSub21976T=0.160C=0.839
The Exome Aggregation ConsortiumAsianSub25166T=0.074C=0.925
The Exome Aggregation ConsortiumEuropeSub73348T=0.065C=0.934
The Exome Aggregation ConsortiumGlobalStudy-wide121398T=0.084C=0.915
The Exome Aggregation ConsortiumOtherSub908T=0.080C=0.920
The Genome Aggregation DatabaseAfricanSub8674T=0.304C=0.696
The Genome Aggregation DatabaseAmericanSub832T=0.050C=0.950
The Genome Aggregation DatabaseEast AsianSub1620T=0.023C=0.977
The Genome Aggregation DatabaseEuropeSub18418T=0.072C=0.927
The Genome Aggregation DatabaseGlobalStudy-wide29846T=0.136C=0.864
The Genome Aggregation DatabaseOtherSub302T=0.030C=0.970
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.172C=0.827
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.084C=0.916
PMID Title Author Journal
26740944Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.Fan ZCMol Genet Genomic Med
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs49561454.11E-05alcohol and nictotine co-dependence20158304

eQTL of rs4956145 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 rs4956145 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 )
chr4108891390108891440E067-39599
chr4108918046108919398E067-11641
chr4108919461108919511E067-11528
chr4108909514108909771E068-21268
chr4108912859108912943E068-18096
chr4108913211108913288E068-17751
chr4108913303108913375E068-17664
chr4108913570108913672E068-17367
chr4108914343108914457E068-16582
chr4108915236108915374E068-15665
chr4108915490108915566E068-15473
chr4108918046108919398E068-11641
chr4108925176108925969E068-5070
chr4108966831108967098E06835792
chr4108893642108894359E069-36680
chr4108909514108909771E069-21268
chr4108912859108912943E069-18096
chr4108913211108913288E069-17751
chr4108913303108913375E069-17664
chr4108913570108913672E069-17367
chr4108914343108914457E069-16582
chr4108925176108925969E069-5070
chr4108939800108940035E0698761
chr4108940121108940171E0699082
chr4108950975108951127E06919936
chr4108966831108967098E06935792
chr4108913570108913672E070-17367
chr4108914343108914457E070-16582
chr4108915236108915374E070-15665
chr4108915490108915566E070-15473
chr4108945637108945702E07014598
chr4108945980108946066E07014941
chr4108966831108967098E07035792
chr4108891390108891440E071-39599
chr4108908873108909041E071-21998
chr4108909136108909449E071-21590
chr4108909514108909771E071-21268
chr4108912859108912943E071-18096
chr4108913211108913288E071-17751
chr4108913303108913375E071-17664
chr4108913570108913672E071-17367
chr4108914343108914457E071-16582
chr4108915236108915374E071-15665
chr4108918046108919398E071-11641
chr4108925176108925969E071-5070
chr4108950885108950964E07119846
chr4108950975108951127E07119936
chr4108951437108951930E07120398
chr4108966544108966788E07135505
chr4108966831108967098E07135792
chr4108979901108980184E07148862
chr4108980225108980460E07149186
chr4108912859108912943E072-18096
chr4108913211108913288E072-17751
chr4108913303108913375E072-17664
chr4108913570108913672E072-17367
chr4108918046108919398E072-11641
chr4108919461108919511E072-11528
chr4108950468108950738E07219429
chr4108950885108950964E07219846
chr4108950975108951127E07219936
chr4108951437108951930E07220398
chr4108966831108967098E07235792
chr4108914343108914457E073-16582
chr4108919461108919511E073-11528
chr4108925176108925969E073-5070
chr4108925971108926068E073-4971
chr4108950975108951127E07319936
chr4108966831108967098E07335792
chr4108891390108891440E074-39599
chr4108909514108909771E074-21268
chr4108912859108912943E074-18096
chr4108925176108925969E074-5070
chr4108925971108926068E074-4971
chr4108950885108950964E07419846
chr4108950975108951127E07419936
chr4108951437108951930E07420398
chr4108912859108912943E081-18096
chr4108914343108914457E081-16582
chr4108912859108912943E082-18096
chr4108913211108913288E082-17751
chr4108913303108913375E082-17664
chr4108913570108913672E082-17367
chr4108914343108914457E082-16582
chr4108915236108915374E082-15665
chr4108915490108915566E082-15473
chr4108915717108915917E082-15122










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4108899227108899287E067-31752
chr4108899905108900081E067-30958
chr4108909987108911908E067-19131
chr4108899227108899287E068-31752
chr4108899905108900081E068-30958
chr4108909987108911908E068-19131
chr4108912072108912533E068-18506
chr4108899227108899287E069-31752
chr4108899905108900081E069-30958
chr4108909987108911908E069-19131
chr4108912072108912533E069-18506
chr4108909987108911908E070-19131
chr4108912072108912533E070-18506
chr4108899227108899287E071-31752
chr4108899905108900081E071-30958
chr4108909987108911908E071-19131
chr4108912072108912533E071-18506
chr4108899227108899287E072-31752
chr4108899905108900081E072-30958
chr4108909987108911908E072-19131
chr4108912072108912533E072-18506
chr4108899905108900081E073-30958
chr4108909987108911908E073-19131
chr4108912072108912533E073-18506
chr4108899227108899287E074-31752
chr4108899905108900081E074-30958
chr4108909987108911908E074-19131
chr4108912072108912533E074-18506
chr4108909987108911908E081-19131
chr4108912072108912533E081-18506
chr4108909987108911908E082-19131
chr4108912072108912533E082-18506