rs11121604

Organism: Homo sapiens

Alleles: A>C / A>G

Gene : Feature

CASZ1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0087 (2607/29942,GnomAD)
G=0072 (2101/29118,TOPMED)
G=0070 (350/5008,1000G)
G=0102 (393/3854,ALSPAC)
G=0109 (403/3708,TWINSUK)

Position: chr1:10669945 (GRCh38.p7) (1p36.22)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 75 Enhancers around

Promoter: 10 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.10669945A>C
GRCh38.p7 chr 1	NC_000001.11:g.10669945A>G
GRCh37.p13 chr 1	NC_000001.10:g.10730002A>C
GRCh37.p13 chr 1	NC_000001.10:g.10730002A>G

Gene: CASZ1, castor zinc finger 1(minus strand)

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

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.995	G=0.005
1000Genomes	American	Sub	694	A=0.950	G=0.050
1000Genomes	East Asian	Sub	1008	A=0.999	G=0.001
1000Genomes	Europe	Sub	1006	A=0.875	G=0.125
1000Genomes	Global	Study-wide	5008	A=0.930	G=0.070
1000Genomes	South Asian	Sub	978	A=0.820	G=0.180
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.898	G=0.102
The Genome Aggregation Database	African	Sub	8720	A=0.982	C=0.000
The Genome Aggregation Database	American	Sub	836	A=0.930	C=0.00,
The Genome Aggregation Database	East Asian	Sub	1622	A=1.000	C=0.000
The Genome Aggregation Database	Europe	Sub	18464	A=0.873	C=0.000
The Genome Aggregation Database	Global	Study-wide	29942	A=0.912	C=0.000
The Genome Aggregation Database	Other	Sub	300	A=0.820	C=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.927	G=0.072
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.891	G=0.109

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

P-Value

SNP ID	p-value	Traits	Study
rs11121604	3.11E-06	alcohol dependence (age at onset)	24962325

eQTL of rs11121604 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 rs11121604 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 )
chr1	10674618	10674691	E067	5520
chr1	10676080	10676130	E067	6982
chr1	10676190	10676279	E067	7092
chr1	10619744	10619845	E068	-49253
chr1	10658122	10658519	E068	-10579
chr1	10674618	10674691	E068	5520
chr1	10674618	10674691	E069	5520
chr1	10676080	10676130	E069	6982
chr1	10676190	10676279	E069	7092
chr1	10639682	10639816	E070	-29282
chr1	10657285	10657517	E070	-11581
chr1	10657636	10657777	E070	-11321
chr1	10657802	10657902	E070	-11196
chr1	10658122	10658519	E070	-10579
chr1	10658521	10658674	E070	-10424
chr1	10658819	10658900	E070	-10198
chr1	10659286	10659975	E070	-9123
chr1	10675435	10675632	E070	6337
chr1	10676080	10676130	E070	6982
chr1	10676190	10676279	E070	7092
chr1	10676383	10676433	E070	7285
chr1	10683745	10683802	E070	14647
chr1	10692059	10692263	E070	22961
chr1	10692491	10692700	E070	23393
chr1	10692869	10693116	E070	23771
chr1	10694645	10695194	E070	25547
chr1	10695242	10696319	E070	26144
chr1	10699890	10700675	E070	30792
chr1	10700718	10700866	E070	31620
chr1	10700912	10701033	E070	31814
chr1	10701085	10701135	E070	31987
chr1	10701359	10701479	E070	32261
chr1	10708766	10708816	E070	39668
chr1	10711529	10711737	E070	42431
chr1	10711855	10712174	E070	42757
chr1	10619540	10619590	E071	-49508
chr1	10619744	10619845	E071	-49253
chr1	10658122	10658519	E071	-10579
chr1	10658521	10658674	E071	-10424
chr1	10674173	10674224	E071	5075
chr1	10674618	10674691	E071	5520
chr1	10675435	10675632	E071	6337
chr1	10676080	10676130	E071	6982
chr1	10676190	10676279	E071	7092
chr1	10694645	10695194	E071	25547
chr1	10695242	10696319	E071	26144
chr1	10700718	10700866	E071	31620
chr1	10700912	10701033	E071	31814
chr1	10701085	10701135	E071	31987
chr1	10619540	10619590	E072	-49508
chr1	10619744	10619845	E072	-49253
chr1	10658122	10658519	E072	-10579
chr1	10674618	10674691	E072	5520
chr1	10676080	10676130	E072	6982
chr1	10676190	10676279	E072	7092
chr1	10658122	10658519	E073	-10579
chr1	10694645	10695194	E073	25547
chr1	10619744	10619845	E074	-49253
chr1	10658122	10658519	E074	-10579
chr1	10674618	10674691	E074	5520
chr1	10672536	10673120	E081	3438
chr1	10675435	10675632	E081	6337
chr1	10676080	10676130	E081	6982
chr1	10676190	10676279	E081	7092
chr1	10676383	10676433	E081	7285
chr1	10695242	10696319	E081	26144
chr1	10699890	10700675	E081	30792
chr1	10700718	10700866	E081	31620
chr1	10700912	10701033	E081	31814
chr1	10711529	10711737	E081	42431
chr1	10711855	10712174	E081	42757
chr1	10652230	10652294	E082	-16804
chr1	10675435	10675632	E082	6337
chr1	10694645	10695194	E082	25547
chr1	10695242	10696319	E082	26144

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	10698813	10698918	E070	29715
chr1	10698970	10699106	E070	29872
chr1	10699129	10699276	E070	30031
chr1	10698304	10698417	E082	29206
chr1	10698437	10698582	E082	29339
chr1	10698617	10698657	E082	29519
chr1	10698725	10698803	E082	29627
chr1	10698813	10698918	E082	29715
chr1	10698970	10699106	E082	29872
chr1	10699129	10699276	E082	30031