rs7228254

Homo sapiens
G>C
ZNF407 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0337 (10080/29892,GnomAD)
G==0409 (11923/29118,TOPMED)
G==0321 (1609/5008,1000G)
G==0298 (1149/3854,ALSPAC)
G==0279 (1035/3708,TWINSUK)
chr18:74781205 (GRCh38.p7) (18q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.74781205G>C
GRCh37.p13 chr 18NC_000018.9:g.72493161G>C
ZNF407 RefSeqGeneNG_013216.1:g.155243G>C

Gene: ZNF407, zinc finger protein 407(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF407 transcript variant 2NM_001146189.1:c.N/AIntron Variant
ZNF407 transcript variant 3NM_001146190.1:c.N/AIntron Variant
ZNF407 transcript variant 1NM_017757.2:c.N/AIntron Variant
ZNF407 transcript variant X2XM_005266726.4:c.N/AIntron Variant
ZNF407 transcript variant X6XM_006722500.3:c.N/AIntron Variant
ZNF407 transcript variant X2XM_011526068.2:c.N/AIntron Variant
ZNF407 transcript variant X4XM_011526069.2:c.N/AIntron Variant
ZNF407 transcript variant X5XM_011526070.1:c.N/AIntron Variant
ZNF407 transcript variant X3XM_017025838.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.611C=0.389
1000GenomesAmericanSub694G=0.200C=0.800
1000GenomesEast AsianSub1008G=0.052C=0.948
1000GenomesEuropeSub1006G=0.288C=0.712
1000GenomesGlobalStudy-wide5008G=0.321C=0.679
1000GenomesSouth AsianSub978G=0.330C=0.670
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.298C=0.702
The Genome Aggregation DatabaseAfricanSub8702G=0.565C=0.435
The Genome Aggregation DatabaseAmericanSub838G=0.160C=0.840
The Genome Aggregation DatabaseEast AsianSub1620G=0.054C=0.946
The Genome Aggregation DatabaseEuropeSub18432G=0.265C=0.734
The Genome Aggregation DatabaseGlobalStudy-wide29892G=0.337C=0.662
The Genome Aggregation DatabaseOtherSub300G=0.170C=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.409C=0.590
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.279C=0.721
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs72282549.25E-06alcohol dependence (age at onset)24962325

eQTL of rs7228254 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 rs7228254 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 )
chr187250958272509739E06816421
chr187250883572509567E06915674
chr187250958272509739E06916421
chr187249227872492328E070-833
chr187249775072497820E0704589
chr187250843972508756E07015278
chr187250883572509567E07015674
chr187250958272509739E07016421
chr187250982072510344E07016659
chr187253957172539621E07046410
chr187254018072540243E07047019
chr187254029772540398E07047136
chr187250764372508030E08114482
chr187250831572508373E08115154
chr187250843972508756E08115278
chr187250883572509567E08115674
chr187250958272509739E08116421
chr187250764372508030E08214482
chr187250831572508373E08215154
chr187250843972508756E08215278
chr187250883572509567E08215674
chr187250958272509739E08216421