rs237238

Homo sapiens
A>C / A>G / A>T
HIP1 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0084 (9873/116278,ExAC)
G=0079 (2375/29954,GnomAD)
G=0081 (2370/29118,TOPMED)
A==0079 (1032/13006,GO-ESP)
G=0097 (488/5008,1000G)
G=0063 (244/3854,ALSPAC)
G=0076 (283/3708,TWINSUK)
chr7:75582098 (GRCh38.p7) (7q11.23)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
45 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.75582098A>C
GRCh38.p7 chr 7NC_000007.14:g.75582098A>G
GRCh38.p7 chr 7NC_000007.14:g.75582098A>T
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.3111334A>C
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.3111334A>G
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.3111334A>T
HIP1 RefSeqGeneNG_023251.2:g.161864T>G
HIP1 RefSeqGeneNG_023251.2:g.161864T>C
HIP1 RefSeqGeneNG_023251.2:g.161864T>A
GRCh37.p13 chr 7NC_000007.13:g.75211414A>C
GRCh37.p13 chr 7NC_000007.13:g.75211414A>G
GRCh37.p13 chr 7NC_000007.13:g.75211414A>T

Gene: HIP1, huntingtin interacting protein 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HIP1 transcript variant 1NM_005338.6:c.519T>GA [GCT]> A [GCG]Coding Sequence Variant
huntingtin-interacting protein 1 isoform 1NP_005329.3:p.Ala...NP_005329.3:p.Ala173=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant 1NM_005338.6:c.519T>CA [GCT]> A [GCC]Coding Sequence Variant
huntingtin-interacting protein 1 isoform 1NP_005329.3:p.Ala...NP_005329.3:p.Ala173=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant 1NM_005338.6:c.519T>AA [GCT]> A [GCA]Coding Sequence Variant
huntingtin-interacting protein 1 isoform 1NP_005329.3:p.Ala...NP_005329.3:p.Ala173=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant 2NM_001243198.2:c....NM_001243198.2:c.519T>GA [GCT]> A [GCG]Coding Sequence Variant
huntingtin-interacting protein 1 isoform 2NP_001230127.1:p....NP_001230127.1:p.Ala173=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant 2NM_001243198.2:c....NM_001243198.2:c.519T>CA [GCT]> A [GCC]Coding Sequence Variant
huntingtin-interacting protein 1 isoform 2NP_001230127.1:p....NP_001230127.1:p.Ala173=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant 2NM_001243198.2:c....NM_001243198.2:c.519T>AA [GCT]> A [GCA]Coding Sequence Variant
huntingtin-interacting protein 1 isoform 2NP_001230127.1:p....NP_001230127.1:p.Ala173=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X3XM_005250304.2:c....XM_005250304.2:c.432T>GA [GCT]> A [GCG]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X3XP_005250361.1:p....XP_005250361.1:p.Ala144=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X3XM_005250304.2:c....XM_005250304.2:c.432T>CA [GCT]> A [GCC]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X3XP_005250361.1:p....XP_005250361.1:p.Ala144=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X3XM_005250304.2:c....XM_005250304.2:c.432T>AA [GCT]> A [GCA]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X3XP_005250361.1:p....XP_005250361.1:p.Ala144=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X4XM_005250305.2:c....XM_005250305.2:c.417T>GA [GCT]> A [GCG]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X4XP_005250362.1:p....XP_005250362.1:p.Ala139=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X4XM_005250305.2:c....XM_005250305.2:c.417T>CA [GCT]> A [GCC]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X4XP_005250362.1:p....XP_005250362.1:p.Ala139=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X4XM_005250305.2:c....XM_005250305.2:c.417T>AA [GCT]> A [GCA]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X4XP_005250362.1:p....XP_005250362.1:p.Ala139=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X1XM_011516116.2:c....XM_011516116.2:c.519T>GA [GCT]> A [GCG]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X1XP_011514418.1:p....XP_011514418.1:p.Ala173=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X1XM_011516116.2:c....XM_011516116.2:c.519T>CA [GCT]> A [GCC]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X1XP_011514418.1:p....XP_011514418.1:p.Ala173=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X1XM_011516116.2:c....XM_011516116.2:c.519T>AA [GCT]> A [GCA]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X1XP_011514418.1:p....XP_011514418.1:p.Ala173=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X2XM_017012099.1:c....XM_017012099.1:c.477T>GA [GCT]> A [GCG]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X2XP_016867588.1:p....XP_016867588.1:p.Ala159=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X2XM_017012099.1:c....XM_017012099.1:c.477T>CA [GCT]> A [GCC]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X2XP_016867588.1:p....XP_016867588.1:p.Ala159=A [Ala]> A [Ala]Synonymous Variant
HIP1 transcript variant X2XM_017012099.1:c....XM_017012099.1:c.477T>AA [GCT]> A [GCA]Coding Sequence Variant
huntingtin-interacting protein 1 isoform X2XP_016867588.1:p....XP_016867588.1:p.Ala159=A [Ala]> A [Ala]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.893G=0.107
1000GenomesAmericanSub694A=0.920G=0.080
1000GenomesEast AsianSub1008A=0.925G=0.075
1000GenomesEuropeSub1006A=0.920G=0.080
1000GenomesGlobalStudy-wide5008A=0.903G=0.097
1000GenomesSouth AsianSub978A=0.860G=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.937G=0.063
The Exome Aggregation ConsortiumAmericanSub20770A=0.917G=0.082
The Exome Aggregation ConsortiumAsianSub24098A=0.875G=0.124
The Exome Aggregation ConsortiumEuropeSub70566A=0.928G=0.071
The Exome Aggregation ConsortiumGlobalStudy-wide116278A=0.915G=0.084
The Exome Aggregation ConsortiumOtherSub844A=0.900G=0.100
The Genome Aggregation DatabaseAfricanSub8728A=0.896G=0.104
The Genome Aggregation DatabaseAmericanSub838A=0.950G=0.050
The Genome Aggregation DatabaseEast AsianSub1616A=0.930G=0.070
The Genome Aggregation DatabaseEuropeSub18470A=0.929G=0.070
The Genome Aggregation DatabaseGlobalStudy-wide29954A=0.920G=0.079
The Genome Aggregation DatabaseOtherSub302A=0.970G=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.918G=0.081
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.924G=0.076
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs2372380.000007alcoholism (12-month weekly alcohol consumption)21529783
rs2372387.00E-06alcohol dependence21529783

eQTL of rs237238 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:75211414NCF1CENSG00000165178.8A>G2.0550e-3623566Caudate_basal_ganglia

meQTL of rs237238 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 )
chr74264492442645411E067-9864
chr74264547242645759E067-9516
chr74268926642690084E06733991
chr74269012842690220E06734853
chr74269022242690350E06734947
chr74269057542690651E06735300
chr74269119942691249E06735924
chr74269133642691457E06736061
chr74265666542658009E0681390
chr74266100642661082E0685731
chr74266113042661201E0685855
chr74266123542661469E0685960
chr74266159942661697E0686324
chr74269057542690651E06835300
chr74269119942691249E06835924
chr74269133642691457E06836061
chr74269149642691546E06836221
chr74269157542691625E06836300
chr74264455442644915E069-10360
chr74264492442645411E069-9864
chr74264648642646558E069-8717
chr74261393342614212E070-41063
chr74264455442644915E071-10360
chr74264547242645759E071-9516
chr74264579942646442E071-8833
chr74264648642646558E071-8717
chr74264658342646633E071-8642
chr74265666542658009E0711390
chr74266100642661082E0715731
chr74266113042661201E0715855
chr74266123542661469E0715960
chr74266159942661697E0716324
chr74268926642690084E07133991
chr74269012842690220E07134853
chr74269022242690350E07134947
chr74269057542690651E07135300
chr74269119942691249E07135924
chr74268877742688827E07233502
chr74268926642690084E07233991
chr74269012842690220E07234853
chr74269022242690350E07234947
chr74269057542690651E07235300
chr74268926642690084E07433991
chr74261393342614212E081-41063
chr74261393342614212E082-41063