rs5999984

Homo sapiens
G>C
APOL5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0100 (2968/29636,GnomAD)
C=0157 (4577/29114,TOPMED)
C=0122 (609/5008,1000G)
C=0001 (2/3854,ALSPAC)
C=0002 (7/3708,TWINSUK)
chr22:35724463 (GRCh38.p7) (22q12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.35724463G>C
GRCh37.p13 chr 22NC_000022.10:g.36120510G>C
GRCh38.p7 chr 22 alt locus HSCHR22_1_CTG4NT_187630.1:g.39230G>C

Gene: APOL5, apolipoprotein L5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
APOL5 transcriptNM_030642.1:c.N/AIntron Variant
APOL5 transcript variant X1XM_006724321.3:c.N/AIntron Variant
APOL5 transcript variant X2XM_017028945.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.560C=0.440
1000GenomesAmericanSub694G=0.970C=0.030
1000GenomesEast AsianSub1008G=1.000C=0.000
1000GenomesEuropeSub1006G=0.995C=0.005
1000GenomesGlobalStudy-wide5008G=0.878C=0.122
1000GenomesSouth AsianSub978G=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999C=0.001
The Genome Aggregation DatabaseAfricanSub8612G=0.659C=0.341
The Genome Aggregation DatabaseAmericanSub828G=0.980C=0.020
The Genome Aggregation DatabaseEast AsianSub1614G=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18280G=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29636G=0.899C=0.100
The Genome Aggregation DatabaseOtherSub302G=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29114G=0.842C=0.157
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.998C=0.002
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs59999840.000452alcohol dependence21314694

eQTL of rs5999984 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 rs5999984 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 )
chr223616254636162712E06742036
chr223612234036122428E0701830
chr223612245736122718E0701947
chr223612275936122884E0702249
chr223612295836123115E0702448
chr223616254636162712E07042036
chr223616274236163325E07042232
chr223616333836163484E07042828
chr223616254636162712E07142036
chr223616274236163325E07142232
chr223608039236080763E072-39747
chr223613952136139841E07319011
chr223616254636162712E07442036
chr223616274236163325E07442232