rs9991830

Homo sapiens
T>C
ZGRF1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0405 (12135/29934,GnomAD)
T==0383 (11175/29118,TOPMED)
T==0275 (1375/5008,1000G)
T==0422 (1626/3854,ALSPAC)
T==0408 (1513/3708,TWINSUK)
chr4:112564216 (GRCh38.p7) (4q25)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.112564216T>C
GRCh37.p13 chr 4NC_000004.11:g.113485372T>C

Gene: ZGRF1, zinc finger GRF-type containing 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZGRF1 transcript variant 1NM_018392.4:c.N/AIntron Variant
ZGRF1 transcript variant X1XM_005263115.3:c.N/AIntron Variant
ZGRF1 transcript variant X2XM_011532091.2:c.N/AIntron Variant
ZGRF1 transcript variant X3XM_011532092.2:c.N/AIntron Variant
ZGRF1 transcript variant X5XM_011532093.2:c.N/AIntron Variant
ZGRF1 transcript variant X6XM_011532094.2:c.N/AIntron Variant
ZGRF1 transcript variant X11XM_011532096.2:c.N/AIntron Variant
ZGRF1 transcript variant X12XM_011532097.2:c.N/AIntron Variant
ZGRF1 transcript variant X13XM_011532098.2:c.N/AIntron Variant
ZGRF1 transcript variant X14XM_011532099.2:c.N/AIntron Variant
ZGRF1 transcript variant X4XM_017008369.1:c.N/AIntron Variant
ZGRF1 transcript variant X5XM_017008370.1:c.N/AIntron Variant
ZGRF1 transcript variant X7XM_017008371.1:c.N/AIntron Variant
ZGRF1 transcript variant X15XM_017008372.1:c.N/AIntron Variant
ZGRF1 transcript variant X16XM_017008373.1:c.N/AIntron Variant
ZGRF1 transcript variant X10XR_001741282.1:n.N/AIntron Variant
ZGRF1 transcript variant X8XR_938763.1:n.N/AIntron Variant
ZGRF1 transcript variant X9XR_938764.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.386C=0.614
1000GenomesAmericanSub694T=0.260C=0.740
1000GenomesEast AsianSub1008T=0.059C=0.941
1000GenomesEuropeSub1006T=0.427C=0.573
1000GenomesGlobalStudy-wide5008T=0.275C=0.725
1000GenomesSouth AsianSub978T=0.200C=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.422C=0.578
The Genome Aggregation DatabaseAfricanSub8702T=0.388C=0.612
The Genome Aggregation DatabaseAmericanSub836T=0.250C=0.750
The Genome Aggregation DatabaseEast AsianSub1618T=0.049C=0.951
The Genome Aggregation DatabaseEuropeSub18476T=0.450C=0.549
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.405C=0.594
The Genome Aggregation DatabaseOtherSub302T=0.470C=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.383C=0.616
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.408C=0.592
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs99918300.00087alcohol dependence20201924

eQTL of rs9991830 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:113485372LARP7ENSG00000174720.11T>C2.1704e-3-72774Cerebellar_Hemisphere

meQTL of rs9991830 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 )
chr4113440778113440858E081-44514
chr4113442934113443192E081-42180
chr4113443369113443617E081-41755
chr4113443634113443737E081-41635
chr4113442934113443192E082-42180


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4113436393113438917E067-46455
chr4113436393113438917E068-46455
chr4113444033113445706E068-39666
chr4113436393113438917E069-46455
chr4113444033113445706E069-39666
chr4113436393113438917E071-46455
chr4113444033113445706E072-39666
chr4113436393113438917E073-46455
chr4113436393113438917E074-46455
chr4113436393113438917E082-46455
chr4113444033113445706E082-39666