rs16992796

Homo sapiens
A>G
ARHGAP8 : Intron Variant
PRR5-ARHGAP8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0116 (3491/29884,GnomAD)
G=0140 (4079/29114,TOPMED)
G=0136 (683/5008,1000G)
G=0061 (236/3854,ALSPAC)
G=0059 (220/3708,TWINSUK)
chr22:44787134 (GRCh38.p7) (22q13.31)
AD
GWASCatalog
1   publication(s)
See rs on genome
64 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.44787134A>G
GRCh37.p13 chr 22NC_000022.10:g.45183014A>G
PRR5-ARHGAP8 RefSeqGeneNG_046967.1:g.89937A>G

Gene: ARHGAP8, Rho GTPase activating protein 8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ARHGAP8 transcript variant 1NM_001017526.1:c.N/AIntron Variant
ARHGAP8 transcript variant 3NM_001198726.1:c.N/AIntron Variant
ARHGAP8 transcript variant 2NM_181335.2:c.N/AIntron Variant

Gene: PRR5-ARHGAP8, PRR5-ARHGAP8 readthrough(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRR5-ARHGAP8 transcriptNM_181334.5:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.725G=0.275
1000GenomesAmericanSub694A=0.920G=0.080
1000GenomesEast AsianSub1008A=0.902G=0.098
1000GenomesEuropeSub1006A=0.937G=0.063
1000GenomesGlobalStudy-wide5008A=0.864G=0.136
1000GenomesSouth AsianSub978A=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.939G=0.061
The Genome Aggregation DatabaseAfricanSub8674A=0.754G=0.246
The Genome Aggregation DatabaseAmericanSub834A=0.910G=0.090
The Genome Aggregation DatabaseEast AsianSub1620A=0.917G=0.083
The Genome Aggregation DatabaseEuropeSub18454A=0.939G=0.060
The Genome Aggregation DatabaseGlobalStudy-wide29884A=0.883G=0.116
The Genome Aggregation DatabaseOtherSub302A=0.910G=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29114A=0.859G=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.941G=0.059
PMID Title Author Journal
22554406Family-based genome-wide association study of frontal theta oscillations identifies potassium channel gene KCNJ6.Kang SJGenes Brain Behav

P-Value

SNP ID p-value Traits Study
rs169927963E-06alcohol dependence22554406

eQTL of rs16992796 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 rs16992796 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 )
chr224519299745193104E0679983
chr224514164345141836E069-41178
chr224519299745193104E0699983
chr224514141445141512E070-41502
chr224514164345141836E070-41178
chr224514184945141976E070-41038
chr224514198445143403E070-39611
chr224514351745143591E070-39423
chr224514363145143672E070-39342
chr224514377245143953E070-39061
chr224518927445189324E0706260
chr224518933445189423E0706320
chr224519156545192646E0708551
chr224519299745193104E0709983
chr224519322745193670E07010213
chr224519425145194320E07011237
chr224519448945194540E07011475
chr224520074745200836E07017733
chr224520092345201007E07017909
chr224520105545201164E07018041
chr224520122245201308E07018208
chr224520165345201756E07018639
chr224520178545201909E07018771
chr224520231745202371E07019303
chr224521632245216850E07033308
chr224521751345217623E07034499
chr224521857545218809E07035561
chr224521896145219041E07035947
chr224521914145219191E07036127
chr224521937545219457E07036361
chr224521946145219511E07036447
chr224521964745219697E07036633
chr224521972445219774E07036710
chr224519299745193104E0719983
chr224519322745193670E07110213
chr224514141445141512E072-41502
chr224514164345141836E072-41178
chr224514184945141976E072-41038
chr224514164345141836E073-41178
chr224514184945141976E073-41038
chr224515617645156263E081-26751
chr224515632745156742E081-26272
chr224515682145156875E081-26139
chr224516096145161316E081-21698
chr224516142045161478E081-21536
chr224516158945161807E081-21207
chr224516201145162061E081-20953
chr224516214745162197E081-20817
chr224516230045162366E081-20648
chr224519156545192646E0818551
chr224519299745193104E0819983
chr224519322745193670E08110213
chr224521632245216850E08133308
chr224521751345217623E08134499
chr224521857545218809E08135561
chr224521896145219041E08135947
chr224515542645155986E082-27028
chr224515617645156263E082-26751
chr224515632745156742E082-26272
chr224515682145156875E082-26139
chr224515798145158031E082-24983
chr224519101245191118E0827998
chr224519156545192646E0828551
chr224519299745193104E0829983