SNP Detail Info-rs10422999

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

FLJ26850 : Intron Variant
LOC100287477 : Missense Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0054 (1636/29828,GnomAD)
A=0082 (2390/29118,TOPMED)
A=0063 (317/5008,1000G)

Position: chr19:50059963 (GRCh38.p7) (19q13.33)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 27 Enhancers around

Promoter: 20 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.50059963C>A
GRCh37.p13 chr 19	NC_000019.9:g.50563220C>A

Molecule type	Change	Amino acid[Codon]	SO Term
FLJ26850 transcript	NR_027257.1:n.	N/A	Intron Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100287477 transcript	XM_011527593.2:c....XM_011527593.2:c.421G>T	G [GGC]> C [TGC]	Coding Sequence Variant
zinc finger protein OZF	XP_011525895.1:p....XP_011525895.1:p.Gly141Cys	G [Gly]> C [Cys]	Missense Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.771	A=0.229
1000Genomes	American	Sub	694	C=0.980	A=0.020
1000Genomes	East Asian	Sub	1008	C=1.000	A=0.000
1000Genomes	Europe	Sub	1006	C=1.000	A=0.000
1000Genomes	Global	Study-wide	5008	C=0.937	A=0.063
1000Genomes	South Asian	Sub	978	C=1.000	A=0.000
The Genome Aggregation Database	African	Sub	8676	C=0.813	A=0.187
The Genome Aggregation Database	American	Sub	836	C=0.990	A=0.010
The Genome Aggregation Database	East Asian	Sub	1618	C=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18400	C=0.999	A=0.000
The Genome Aggregation Database	Global	Study-wide	29828	C=0.945	A=0.054
The Genome Aggregation Database	Other	Sub	298	C=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.917	A=0.082

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs10422999	0.000982	alcohol dependence	21314694

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:50563220	CTD-2126E3.1	ENSG00000204666.3	C>A	1.7105e-2	9374	Cerebellum
Chr19:50563220	CTD-2126E3.5	ENSG00000269540.1	C>A	8.2470e-5	-269	Hypothalamus

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr19	50527064	50527146	E067	-36074
chr19	50527189	50527300	E067	-35920
chr19	50527410	50527454	E067	-35766
chr19	50530464	50530876	E067	-32344
chr19	50527410	50527454	E068	-35766
chr19	50530464	50530876	E070	-32344
chr19	50530927	50531030	E070	-32190
chr19	50526750	50526927	E071	-36293
chr19	50527064	50527146	E071	-36074
chr19	50527189	50527300	E071	-35920
chr19	50527410	50527454	E071	-35766
chr19	50530464	50530876	E071	-32344
chr19	50530927	50531030	E071	-32190
chr19	50527189	50527300	E072	-35920
chr19	50527410	50527454	E072	-35766
chr19	50530464	50530876	E072	-32344
chr19	50550092	50550651	E072	-12569
chr19	50527410	50527454	E073	-35766
chr19	50530464	50530876	E073	-32344
chr19	50530927	50531030	E073	-32190
chr19	50527189	50527300	E074	-35920
chr19	50527410	50527454	E074	-35766
chr19	50527189	50527300	E081	-35920
chr19	50527410	50527454	E081	-35766
chr19	50530464	50530876	E081	-32344
chr19	50553351	50553466	E081	-9754
chr19	50530464	50530876	E082	-32344

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	50527704	50529696	E067	-33524
chr19	50553521	50554643	E067	-8577
chr19	50527704	50529696	E068	-33524
chr19	50553521	50554643	E068	-8577
chr19	50527704	50529696	E069	-33524
chr19	50553521	50554643	E069	-8577
chr19	50527704	50529696	E070	-33524
chr19	50553521	50554643	E070	-8577
chr19	50527704	50529696	E071	-33524
chr19	50553521	50554643	E071	-8577
chr19	50527704	50529696	E072	-33524
chr19	50553521	50554643	E072	-8577
chr19	50527704	50529696	E073	-33524
chr19	50553521	50554643	E073	-8577
chr19	50527704	50529696	E074	-33524
chr19	50553521	50554643	E074	-8577
chr19	50527704	50529696	E081	-33524
chr19	50553521	50554643	E081	-8577
chr19	50527704	50529696	E082	-33524
chr19	50553521	50554643	E082	-8577

rs10422999