rs2284980

Homo sapiens
T>C
ZNF225 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0173 (5182/29962,GnomAD)
T==0177 (5159/29118,TOPMED)
T==0280 (1404/5008,1000G)
T==0114 (439/3854,ALSPAC)
T==0118 (439/3708,TWINSUK)
chr19:44129321 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
60 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44129321T>C
GRCh37.p13 chr 19NC_000019.9:g.44633474T>C

Gene: ZNF225, zinc finger protein 225(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF225 transcript variant 2NM_001321685.1:c.N/AIntron Variant
ZNF225 transcript variant 1NM_013362.3:c.N/AIntron Variant
ZNF225 transcript variant X3XM_005259223.3:c.N/AIntron Variant
ZNF225 transcript variant X1XM_011527285.2:c.N/AIntron Variant
ZNF225 transcript variant X2XM_011527286.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.206C=0.794
1000GenomesAmericanSub694T=0.400C=0.600
1000GenomesEast AsianSub1008T=0.496C=0.504
1000GenomesEuropeSub1006T=0.129C=0.871
1000GenomesGlobalStudy-wide5008T=0.280C=0.720
1000GenomesSouth AsianSub978T=0.230C=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.114C=0.886
The Genome Aggregation DatabaseAfricanSub8718T=0.174C=0.826
The Genome Aggregation DatabaseAmericanSub836T=0.430C=0.570
The Genome Aggregation DatabaseEast AsianSub1620T=0.454C=0.546
The Genome Aggregation DatabaseEuropeSub18486T=0.136C=0.863
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.173C=0.827
The Genome Aggregation DatabaseOtherSub302T=0.130C=0.870
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.177C=0.822
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.118C=0.882
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
rs22849800.000146alcohol consumption23743675

eQTL of rs2284980 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 rs2284980 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 )
chr194467075844670818E06737284
chr194467093344671011E06737459
chr194467104944671115E06737575
chr194461888344619034E068-14440
chr194467075844670818E06837284
chr194467093344671011E06837459
chr194460014844600194E069-33280
chr194460014844600194E070-33280
chr194461888344619034E070-14440
chr194461903744619091E070-14383
chr194461912544619165E070-14309
chr194467075844670818E07037284
chr194467093344671011E07037459
chr194467104944671115E07037575
chr194467187644671938E07038402
chr194461888344619034E071-14440
chr194467075844670818E07137284
chr194467075844670818E07237284
chr194467093344671011E07237459
chr194467075844670818E07437284
chr194467093344671011E07437459
chr194467187644671938E07438402
chr194467075844670818E08137284
chr194467093344671011E08137459
chr194467104944671115E08137575
chr194467187644671938E08138402
chr194460081644600930E082-32544
chr194467093344671011E08237459
chr194467104944671115E08237575









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194459804744599722E067-33752
chr194461592544616789E067-16685
chr194461680644618482E067-14992
chr194464488144646741E06711407
chr194466849844670041E06735024
chr194459781244597885E068-35589
chr194459793544597989E068-35485
chr194459804744599722E068-33752
chr194461578744615827E068-17647
chr194461592544616789E068-16685
chr194461680644618482E068-14992
chr194464474344644803E06811269
chr194464488144646741E06811407
chr194466849844670041E06835024
chr194459804744599722E069-33752
chr194461578744615827E069-17647
chr194461592544616789E069-16685
chr194461680644618482E069-14992
chr194464488144646741E06911407
chr194466849844670041E06935024
chr194459804744599722E070-33752
chr194461592544616789E070-16685
chr194461680644618482E070-14992
chr194464474344644803E07011269
chr194464488144646741E07011407
chr194466849844670041E07035024
chr194459804744599722E071-33752
chr194461578744615827E071-17647
chr194461592544616789E071-16685
chr194461680644618482E071-14992
chr194464474344644803E07111269
chr194464488144646741E07111407
chr194466849844670041E07135024
chr194459804744599722E072-33752
chr194461592544616789E072-16685
chr194461680644618482E072-14992
chr194464474344644803E07211269
chr194464488144646741E07211407
chr194466849844670041E07235024
chr194459804744599722E073-33752
chr194461592544616789E073-16685
chr194461680644618482E073-14992
chr194464488144646741E07311407
chr194466849844670041E07335024
chr194459804744599722E074-33752
chr194461592544616789E074-16685
chr194461680644618482E074-14992
chr194464488144646741E07411407
chr194466849844670041E07435024
chr194459804744599722E081-33752
chr194461592544616789E081-16685
chr194461680644618482E081-14992
chr194464488144646741E08111407
chr194466849844670041E08135024
chr194459804744599722E082-33752
chr194461592544616789E082-16685
chr194461680644618482E082-14992
chr194464474344644803E08211269
chr194464488144646741E08211407
chr194466849844670041E08235024