rs2068061

Homo sapiens
A>G
ZNF224 : Missense Variant
LOC100379224 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0176 (21392/121316,ExAC)
A==0149 (4465/29970,GnomAD)
A==0144 (4210/29118,TOPMED)
G=0131 (1706/13006,GO-ESP)
A==0211 (1057/5008,1000G)
A==0115 (444/3854,ALSPAC)
A==0117 (433/3708,TWINSUK)
chr19:44106512 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
70 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44106512A>G
GRCh37.p13 chr 19NC_000019.9:g.44610665A>G

Gene: ZNF224, zinc finger protein 224(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF224 transcriptNM_013398.3:c.352A>GM [ATG]> V [GTG]Coding Sequence Variant
zinc finger protein 224NP_037530.2:p.Met...NP_037530.2:p.Met118ValM [Met]> V [Val]Missense Variant
ZNF224 transcriptNM_001321645.1:c....NM_001321645.1:c.352A>GM [ATG]> V [GTG]Coding Sequence Variant
zinc finger protein 224NP_001308574.1:p....NP_001308574.1:p.Met118ValM [Met]> V [Val]Missense Variant
ZNF224 transcript variant X1XM_017027261.1:c....XM_017027261.1:c.352A>GM [ATG]> V [GTG]Coding Sequence Variant
zinc finger protein 224 isoform X1XP_016882750.1:p....XP_016882750.1:p.Met118ValM [Met]> V [Val]Missense Variant

Gene: LOC100379224, uncharacterized LOC100379224(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100379224 transcriptNR_033341.1:n.218...NR_033341.1:n.2188T>CT>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.123G=0.877
1000GenomesAmericanSub694A=0.260G=0.740
1000GenomesEast AsianSub1008A=0.406G=0.594
1000GenomesEuropeSub1006A=0.120G=0.880
1000GenomesGlobalStudy-wide5008A=0.211G=0.789
1000GenomesSouth AsianSub978A=0.190G=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.115G=0.885
The Genome Aggregation DatabaseAfricanSub8724A=0.128G=0.872
The Genome Aggregation DatabaseAmericanSub838A=0.240G=0.760
The Genome Aggregation DatabaseEast AsianSub1616A=0.413G=0.587
The Genome Aggregation DatabaseEuropeSub18490A=0.130G=0.869
The Genome Aggregation DatabaseGlobalStudy-wide29970A=0.149G=0.851
The Genome Aggregation DatabaseOtherSub302A=0.180G=0.820
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.144G=0.855
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.117G=0.883
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs20680610.000149alcohol consumption23743675

eQTL of rs2068061 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 rs2068061 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 )
chr194461888344619034E0688218
chr194460014844600194E069-10471
chr194460014844600194E070-10471
chr194461888344619034E0708218
chr194461903744619091E0708372
chr194461912544619165E0708460
chr194461888344619034E0718218
chr194460081644600930E082-9735





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-35055
chr194457564244577153E067-33512
chr194459804744599722E067-10943
chr194461592544616789E0675260
chr194461680644618482E0676141
chr194464488144646741E06734216
chr194457541944575610E068-35055
chr194457564244577153E068-33512
chr194459781244597885E068-12780
chr194459793544597989E068-12676
chr194459804744599722E068-10943
chr194461578744615827E0685122
chr194461592544616789E0685260
chr194461680644618482E0686141
chr194464474344644803E06834078
chr194464488144646741E06834216
chr194457541944575610E069-35055
chr194457564244577153E069-33512
chr194459804744599722E069-10943
chr194461578744615827E0695122
chr194461592544616789E0695260
chr194461680644618482E0696141
chr194464488144646741E06934216
chr194457541944575610E070-35055
chr194457564244577153E070-33512
chr194459804744599722E070-10943
chr194461592544616789E0705260
chr194461680644618482E0706141
chr194464474344644803E07034078
chr194464488144646741E07034216
chr194457541944575610E071-35055
chr194457564244577153E071-33512
chr194459804744599722E071-10943
chr194461578744615827E0715122
chr194461592544616789E0715260
chr194461680644618482E0716141
chr194464474344644803E07134078
chr194464488144646741E07134216
chr194457541944575610E072-35055
chr194457564244577153E072-33512
chr194459804744599722E072-10943
chr194461592544616789E0725260
chr194461680644618482E0726141
chr194464474344644803E07234078
chr194464488144646741E07234216
chr194457541944575610E073-35055
chr194457564244577153E073-33512
chr194459804744599722E073-10943
chr194461592544616789E0735260
chr194461680644618482E0736141
chr194464488144646741E07334216
chr194457541944575610E074-35055
chr194457564244577153E074-33512
chr194459804744599722E074-10943
chr194461592544616789E0745260
chr194461680644618482E0746141
chr194464488144646741E07434216
chr194457541944575610E081-35055
chr194457564244577153E081-33512
chr194459804744599722E081-10943
chr194461592544616789E0815260
chr194461680644618482E0816141
chr194464488144646741E08134216
chr194457541944575610E082-35055
chr194457564244577153E082-33512
chr194459804744599722E082-10943
chr194461592544616789E0825260
chr194461680644618482E0826141
chr194464474344644803E08234078
chr194464488144646741E08234216