rs6511383

Homo sapiens
C>T
ZNF99 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0190 (5718/29948,GnomAD)
T=0239 (6978/29118,TOPMED)
T=0222 (1111/5008,1000G)
T=0114 (441/3854,ALSPAC)
T=0117 (432/3708,TWINSUK)
chr19:22774098 (GRCh38.p7) (19p12)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.22774098C>T
GRCh37.p13 chr 19NC_000019.9:g.22956900C>T
BNIP3P34 pseudogeneNG_021761.1:g.346C>T

Gene: ZNF99, zinc finger protein 99(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF99 transcriptNM_001080409.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.565T=0.435
1000GenomesAmericanSub694C=0.860T=0.140
1000GenomesEast AsianSub1008C=0.824T=0.176
1000GenomesEuropeSub1006C=0.863T=0.137
1000GenomesGlobalStudy-wide5008C=0.778T=0.222
1000GenomesSouth AsianSub978C=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.886T=0.114
The Genome Aggregation DatabaseAfricanSub8710C=0.614T=0.386
The Genome Aggregation DatabaseAmericanSub838C=0.860T=0.140
The Genome Aggregation DatabaseEast AsianSub1614C=0.845T=0.155
The Genome Aggregation DatabaseEuropeSub18484C=0.895T=0.104
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.809T=0.190
The Genome Aggregation DatabaseOtherSub302C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.760T=0.239
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.883T=0.117
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs65113830.000702alcohol dependence24277619

eQTL of rs6511383 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:22956900ZNF492ENSG00000229676.2C>T2.1394e-3139774Cerebellum
Chr19:22956900ZNF492ENSG00000229676.2C>T6.0727e-4139774Cerebellar_Hemisphere

meQTL of rs6511383 in Fetal Brain

Probe ID Position Gene beta p-value
cg09314196chr19:22816508ZNF4920.09603845880673689.1091e-30

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr192296655222967186E0679652
chr192296728422967378E06710384
chr192296655222967186E0689652
chr192296728422967378E06810384
chr192296655222967186E0699652
chr192296728422967378E06910384
chr192296655222967186E0719652
chr192296728422967378E07110384
chr192296655222967186E0729652
chr192296728422967378E07210384
chr192296655222967186E0739652
chr192296728422967378E07310384
chr192296655222967186E0749652
chr192296728422967378E07410384