SNP Detail Info-rs284300

Organism: Homo sapiens

Alleles: C>A / C>G / C>T

Gene : Feature

CASZ1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0267 (8001/29902,GnomAD)
G=0309 (9019/29118,TOPMED)
C==0270 (3520/12996,GO-ESP)
G=0312 (1561/5008,1000G)

Position: chr1:10649252 (GRCh38.p7) (1p36.22)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 16 Enhancers around

Promoter: 34 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
CASZ1 transcript variant 1	NM_001079843.2:c.	N/A	Intron Variant
CASZ1 transcript variant 2	NM_017766.4:c.	N/A	Intron Variant
CASZ1 transcript variant X4	XM_005263479.3:c.	N/A	Intron Variant
CASZ1 transcript variant X5	XM_011541635.2:c.	N/A	Intron Variant
CASZ1 transcript variant X1	XM_017001539.1:c.	N/A	Intron Variant
CASZ1 transcript variant X2	XM_017001540.1:c.	N/A	Intron Variant
CASZ1 transcript variant X3	XM_017001541.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.461	G=0.539
1000Genomes	American	Sub	694	C=0.860	G=0.140
1000Genomes	East Asian	Sub	1008	C=0.769	G=0.231
1000Genomes	Europe	Sub	1006	C=0.817	G=0.183
1000Genomes	Global	Study-wide	5008	C=0.688	G=0.312
1000Genomes	South Asian	Sub	978	C=0.660	G=0.340
The Genome Aggregation Database	African	Sub	8702	C=0.524	G=0.476
The Genome Aggregation Database	American	Sub	836	C=0.880	G=0.120
The Genome Aggregation Database	East Asian	Sub	1622	C=0.768	G=0.232
The Genome Aggregation Database	Europe	Sub	18440	C=0.820	G=0.179
The Genome Aggregation Database	Global	Study-wide	29902	C=0.732	G=0.267
The Genome Aggregation Database	Other	Sub	302	C=0.770	G=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.690	G=0.309

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

SNP ID	p-value	Traits	Study
rs284300	8.55E-06	alcohol dependence (age at onset)	24962325

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	101668748	101668891	E067	-5394
chr1	101668579	101668701	E070	-5584
chr1	101668748	101668891	E070	-5394
chr1	101669071	101669204	E070	-5081
chr1	101669461	101671433	E070	-2852
chr1	101682895	101682975	E070	8610
chr1	101684909	101685089	E070	10624
chr1	101685204	101685262	E070	10919
chr1	101685582	101685813	E070	11297
chr1	101685895	101686150	E070	11610
chr1	101723944	101724056	E071	49659
chr1	101673553	101673698	E081	-587
chr1	101685204	101685262	E081	10919
chr1	101685582	101685813	E081	11297
chr1	101685895	101686150	E081	11610
chr1	101669461	101671433	E082	-2852

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	101700692	101703534	E067	26407
chr1	101703586	101705585	E067	29301
chr1	101705618	101706118	E067	31333
chr1	101706187	101706324	E067	31902
chr1	101700692	101703534	E068	26407
chr1	101703586	101705585	E068	29301
chr1	101705618	101706118	E068	31333
chr1	101706187	101706324	E068	31902
chr1	101706363	101706411	E068	32078
chr1	101700692	101703534	E069	26407
chr1	101703586	101705585	E069	29301
chr1	101703586	101705585	E070	29301
chr1	101705618	101706118	E070	31333
chr1	101706187	101706324	E070	31902
chr1	101706363	101706411	E070	32078
chr1	101700692	101703534	E071	26407
chr1	101703586	101705585	E071	29301
chr1	101705618	101706118	E071	31333
chr1	101706187	101706324	E071	31902
chr1	101706363	101706411	E071	32078
chr1	101700692	101703534	E072	26407
chr1	101703586	101705585	E072	29301
chr1	101700692	101703534	E073	26407
chr1	101703586	101705585	E073	29301
chr1	101705618	101706118	E073	31333
chr1	101700692	101703534	E074	26407
chr1	101703586	101705585	E074	29301
chr1	101705618	101706118	E074	31333
chr1	101706187	101706324	E074	31902
chr1	101706363	101706411	E074	32078
chr1	101700692	101703534	E082	26407
chr1	101703586	101705585	E082	29301
chr1	101705618	101706118	E082	31333
chr1	101706187	101706324	E082	31902

rs284300