rs3750204

Homo sapiens
G>A / G>C / G>T
ZNF623 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0258 (7753/29942,GnomAD)
A=0292 (8530/29118,TOPMED)
G==0255 (3319/13006,GO-ESP)
A=0309 (1545/5008,1000G)
chr8:143650280 (GRCh38.p7) (8q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
94 Enhancers around
39 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.143650280G>A
GRCh38.p7 chr 8NC_000008.11:g.143650280G>C
GRCh38.p7 chr 8NC_000008.11:g.143650280G>T
GRCh37.p13 chr 8NC_000008.10:g.144732450G>A
GRCh37.p13 chr 8NC_000008.10:g.144732450G>C
GRCh37.p13 chr 8NC_000008.10:g.144732450G>T
GRCh38.p7 chr 8 alt locus HSCHR8_3_CTG7NT_187571.1:g.125749G>A
GRCh38.p7 chr 8 alt locus HSCHR8_3_CTG7NT_187571.1:g.125749G>C
GRCh38.p7 chr 8 alt locus HSCHR8_3_CTG7NT_187571.1:g.125749G>T

Gene: ZNF623, zinc finger protein 623(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF623 transcript variant 1NM_014789.3:c.408G>AS [TCG]> S [TCA]Coding Sequence Variant
zinc finger protein 623 isoform 1NP_055604.3:p.Ser...NP_055604.3:p.Ser136=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant 1NM_014789.3:c.408G>CS [TCG]> S [TCC]Coding Sequence Variant
zinc finger protein 623 isoform 1NP_055604.3:p.Ser...NP_055604.3:p.Ser136=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant 1NM_014789.3:c.408G>TS [TCG]> S [TCT]Coding Sequence Variant
zinc finger protein 623 isoform 1NP_055604.3:p.Ser...NP_055604.3:p.Ser136=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant 2NM_001082480.2:c....NM_001082480.2:c.288G>AS [TCG]> S [TCA]Coding Sequence Variant
zinc finger protein 623 isoform 2NP_001075949.1:p....NP_001075949.1:p.Ser96=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant 2NM_001082480.2:c....NM_001082480.2:c.288G>CS [TCG]> S [TCC]Coding Sequence Variant
zinc finger protein 623 isoform 2NP_001075949.1:p....NP_001075949.1:p.Ser96=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant 2NM_001082480.2:c....NM_001082480.2:c.288G>TS [TCG]> S [TCT]Coding Sequence Variant
zinc finger protein 623 isoform 2NP_001075949.1:p....NP_001075949.1:p.Ser96=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant 3NM_001261843.1:c....NM_001261843.1:c.288G>AS [TCG]> S [TCA]Coding Sequence Variant
zinc finger protein 623 isoform 2NP_001248772.1:p....NP_001248772.1:p.Ser96=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant 3NM_001261843.1:c....NM_001261843.1:c.288G>CS [TCG]> S [TCC]Coding Sequence Variant
zinc finger protein 623 isoform 2NP_001248772.1:p....NP_001248772.1:p.Ser96=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant 3NM_001261843.1:c....NM_001261843.1:c.288G>TS [TCG]> S [TCT]Coding Sequence Variant
zinc finger protein 623 isoform 2NP_001248772.1:p....NP_001248772.1:p.Ser96=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant X1XM_006716708.3:c....XM_006716708.3:c.288G>AS [TCG]> S [TCA]Coding Sequence Variant
zinc finger protein 623 isoform X1XP_006716771.1:p....XP_006716771.1:p.Ser96=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant X1XM_006716708.3:c....XM_006716708.3:c.288G>CS [TCG]> S [TCC]Coding Sequence Variant
zinc finger protein 623 isoform X1XP_006716771.1:p....XP_006716771.1:p.Ser96=S [Ser]> S [Ser]Synonymous Variant
ZNF623 transcript variant X1XM_006716708.3:c....XM_006716708.3:c.288G>TS [TCG]> S [TCT]Coding Sequence Variant
zinc finger protein 623 isoform X1XP_006716771.1:p....XP_006716771.1:p.Ser96=S [Ser]> S [Ser]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.644A=0.356
1000GenomesAmericanSub694G=0.690A=0.310
1000GenomesEast AsianSub1008G=0.635A=0.365
1000GenomesEuropeSub1006G=0.773A=0.227
1000GenomesGlobalStudy-wide5008G=0.691A=0.309
1000GenomesSouth AsianSub978G=0.730A=0.270
The Genome Aggregation DatabaseAfricanSub8714G=0.674A=0.326
The Genome Aggregation DatabaseAmericanSub838G=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1620G=0.641A=0.359
The Genome Aggregation DatabaseEuropeSub18468G=0.781A=0.218
The Genome Aggregation DatabaseGlobalStudy-wide29942G=0.741A=0.258
The Genome Aggregation DatabaseOtherSub302G=0.690A=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.707A=0.292
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
rs37502043.26E-05alcohol consumption23743675

eQTL of rs3750204 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:144732450ZNF623ENSG00000183309.7G>A1.6066e-1314267Cerebellum
Chr8:144732450ZNF623ENSG00000183309.7G>A2.8968e-1114267Cerebellar_Hemisphere

meQTL of rs3750204 in Fetal Brain

Probe ID Position Gene beta p-value
cg17211192chr8:82754475SNX160.06479748977329936.7363e-27
cg27398817chr8:82754497SNX160.03840175693116452.7176e-15
cg23324259chr8:82754387SNX160.01771319224007824.3004e-14

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 )
chr88272692182727044E067239
chr88272708482727145E067402
chr88272739782727713E067715
chr88275141582751459E06724733
chr88275155182751632E06724869
chr88275169382751743E06725011
chr88275176982751905E06725087
chr88275192082751978E06725238
chr88275205182752101E06725369
chr88275213682752286E06725454
chr88275242482752500E06725742
chr88275252382752586E06725841
chr88274913582749745E06822453
chr88275040382750493E06823721
chr88275055782750622E06823875
chr88275073382750913E06824051
chr88275118682751259E06824504
chr88275141582751459E06824733
chr88275155182751632E06824869
chr88275169382751743E06825011
chr88275242482752500E06825742
chr88275252382752586E06825841
chr88275264882752702E06825966
chr88275205182752101E06925369
chr88275213682752286E06925454
chr88275242482752500E06925742
chr88275252382752586E06925841
chr88275264882752702E06925966
chr88270876682709232E070-17450
chr88270927582709325E070-17357
chr88270935482709440E070-17242
chr88273635982736422E0709677
chr88273760682737656E07010924
chr88273770482737783E07011022
chr88274913582749745E07022453
chr88272692182727044E071239
chr88272739782727713E071715
chr88275040382750493E07123721
chr88275055782750622E07123875
chr88275073382750913E07124051
chr88275176982751905E07125087
chr88275192082751978E07125238
chr88275205182752101E07125369
chr88275213682752286E07125454
chr88275242482752500E07125742
chr88275252382752586E07125841
chr88275264882752702E07125966
chr88277068982771569E07144007
chr88269268482693377E072-33305
chr88272629482726439E072-243
chr88272692182727044E072239
chr88272708482727145E072402
chr88272739782727713E072715
chr88272739782727713E073715
chr88272692182727044E074239
chr88275040382750493E07423721
chr88275055782750622E07423875
chr88275073382750913E07424051
chr88275118682751259E07424504
chr88275141582751459E07424733
chr88275155182751632E07424869
chr88275169382751743E07425011
chr88275176982751905E07425087
chr88275192082751978E07425238
chr88275205182752101E07425369
chr88275213682752286E07425454
chr88275242482752500E07425742
chr88275252382752586E07425841
chr88275264882752702E07425966
chr88269268482693377E081-33305
chr88274894182748991E08122259
chr88275118682751259E08124504
chr88275141582751459E08124733
chr88275155182751632E08124869
chr88275169382751743E08125011
chr88275176982751905E08125087
chr88275192082751978E08125238
chr88275205182752101E08125369
chr88275213682752286E08125454
chr88275242482752500E08125742
chr88275252382752586E08125841
chr88275264882752702E08125966
chr88269939382699447E082-27235
chr88269957982699654E082-27028
chr88274913582749745E08222453
chr88274982582749873E08223143
chr88275155182751632E08224869
chr88275169382751743E08225011
chr88275176982751905E08225087
chr88275192082751978E08225238
chr88275205182752101E08225369
chr88275213682752286E08225454
chr88275242482752500E08225742
chr88275252382752586E08225841










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr88275290282753069E06726220
chr88275314082753307E06726458
chr88275349982753591E06726817
chr88275360282754599E06726920
chr88275349982753591E06826817
chr88275360282754599E06826920
chr88275461982755486E06827937
chr88275290282753069E06926220
chr88275314082753307E06926458
chr88275349982753591E06926817
chr88275360282754599E06926920
chr88275290282753069E07026220
chr88275314082753307E07026458
chr88275349982753591E07026817
chr88275360282754599E07026920
chr88275290282753069E07126220
chr88275314082753307E07126458
chr88275349982753591E07126817
chr88275360282754599E07126920
chr88275461982755486E07127937
chr88275290282753069E07226220
chr88275314082753307E07226458
chr88275349982753591E07226817
chr88275360282754599E07226920
chr88275290282753069E07326220
chr88275314082753307E07326458
chr88275349982753591E07326817
chr88275360282754599E07326920
chr88275461982755486E07327937
chr88275314082753307E07426458
chr88275349982753591E07426817
chr88275360282754599E07426920
chr88275461982755486E07427937
chr88275360282754599E08126920
chr88275290282753069E08226220
chr88275314082753307E08226458
chr88275349982753591E08226817
chr88275360282754599E08226920
chr88275461982755486E08227937