rs61776326

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

CASZ1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0083 (2510/29956,GnomAD)
A=0071 (2069/29118,TOPMED)
A=0057 (286/5008,1000G)
A=0098 (377/3854,ALSPAC)
A=0108 (401/3708,TWINSUK)

Position: chr1:10682063 (GRCh38.p7) (1p36.22)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 188 Enhancers around

Promoter: 26 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.10682063G>A
GRCh37.p13 chr 1	NC_000001.10:g.10742120G>A

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	G=0.996	A=0.004
1000Genomes	American	Sub	694	G=0.940	A=0.060
1000Genomes	East Asian	Sub	1008	G=0.999	A=0.001
1000Genomes	Europe	Sub	1006	G=0.878	A=0.122
1000Genomes	Global	Study-wide	5008	G=0.943	A=0.057
1000Genomes	South Asian	Sub	978	G=0.880	A=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.902	A=0.098
The Genome Aggregation Database	African	Sub	8732	G=0.984	A=0.016
The Genome Aggregation Database	American	Sub	836	G=0.930	A=0.070
The Genome Aggregation Database	East Asian	Sub	1622	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18464	G=0.877	A=0.122
The Genome Aggregation Database	Global	Study-wide	29956	G=0.916	A=0.083
The Genome Aggregation Database	Other	Sub	302	G=0.830	A=0.170
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.928	A=0.071
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.892	A=0.108

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
rs61776326	7.2E-07	alcohol dependence (age at onset)	24962325

eQTL of rs61776326 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 rs61776326 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	10723387	10724295	E067	-17825
chr1	10725989	10726476	E067	-15644
chr1	10723387	10724295	E068	-17825
chr1	10785830	10785880	E068	43710
chr1	10786271	10786434	E068	44151
chr1	10786546	10786784	E068	44426
chr1	10786891	10787155	E068	44771
chr1	10787288	10787463	E068	45168
chr1	10787530	10787737	E068	45410
chr1	10787785	10788318	E068	45665
chr1	10788327	10788518	E068	46207
chr1	10723387	10724295	E069	-17825
chr1	10725626	10725944	E069	-16176
chr1	10725989	10726476	E069	-15644
chr1	10755770	10755982	E069	13650
chr1	10787785	10788318	E069	45665
chr1	10788327	10788518	E069	46207
chr1	10692491	10692700	E070	-49420
chr1	10692869	10693116	E070	-49004
chr1	10694645	10695194	E070	-46926
chr1	10695242	10696319	E070	-45801
chr1	10699890	10700675	E070	-41445
chr1	10700718	10700866	E070	-41254
chr1	10700912	10701033	E070	-41087
chr1	10701085	10701135	E070	-40985
chr1	10701359	10701479	E070	-40641
chr1	10708766	10708816	E070	-33304
chr1	10711529	10711737	E070	-30383
chr1	10711855	10712174	E070	-29946
chr1	10723007	10723313	E070	-18807
chr1	10723387	10724295	E070	-17825
chr1	10724441	10724697	E070	-17423
chr1	10730791	10730871	E070	-11249
chr1	10731201	10731514	E070	-10606
chr1	10731564	10731686	E070	-10434
chr1	10731720	10732119	E070	-10001
chr1	10733491	10733680	E070	-8440
chr1	10734074	10734134	E070	-7986
chr1	10734771	10734824	E070	-7296
chr1	10735138	10735403	E070	-6717
chr1	10735523	10735640	E070	-6480
chr1	10737231	10738061	E070	-4059
chr1	10738134	10738259	E070	-3861
chr1	10738329	10738466	E070	-3654
chr1	10738761	10738860	E070	-3260
chr1	10738967	10740291	E070	-1829
chr1	10767361	10767513	E070	25241
chr1	10767551	10767643	E070	25431
chr1	10768635	10768762	E070	26515
chr1	10768980	10769042	E070	26860
chr1	10769113	10769213	E070	26993
chr1	10769418	10769563	E070	27298
chr1	10769615	10769728	E070	27495
chr1	10769817	10769931	E070	27697
chr1	10769960	10770084	E070	27840
chr1	10772662	10772802	E070	30542
chr1	10772825	10773470	E070	30705
chr1	10773551	10773602	E070	31431
chr1	10779843	10780048	E070	37723
chr1	10780529	10780885	E070	38409
chr1	10781765	10781945	E070	39645
chr1	10781996	10782268	E070	39876
chr1	10784730	10785822	E070	42610
chr1	10785830	10785880	E070	43710
chr1	10786271	10786434	E070	44151
chr1	10786546	10786784	E070	44426
chr1	10786891	10787155	E070	44771
chr1	10787288	10787463	E070	45168
chr1	10787530	10787737	E070	45410
chr1	10787785	10788318	E070	45665
chr1	10788327	10788518	E070	46207
chr1	10788672	10789110	E070	46552
chr1	10789132	10789357	E070	47012
chr1	10789510	10789791	E070	47390
chr1	10694645	10695194	E071	-46926
chr1	10695242	10696319	E071	-45801
chr1	10700718	10700866	E071	-41254
chr1	10700912	10701033	E071	-41087
chr1	10701085	10701135	E071	-40985
chr1	10723007	10723313	E071	-18807
chr1	10723387	10724295	E071	-17825
chr1	10725626	10725944	E071	-16176
chr1	10725989	10726476	E071	-15644
chr1	10742209	10742367	E071	89
chr1	10769817	10769931	E071	27697
chr1	10785830	10785880	E071	43710
chr1	10786271	10786434	E071	44151
chr1	10786546	10786784	E071	44426
chr1	10786891	10787155	E071	44771
chr1	10787288	10787463	E071	45168
chr1	10787530	10787737	E071	45410
chr1	10787785	10788318	E071	45665
chr1	10788327	10788518	E071	46207
chr1	10788672	10789110	E071	46552
chr1	10789132	10789357	E071	47012
chr1	10789510	10789791	E071	47390
chr1	10723007	10723313	E072	-18807
chr1	10723387	10724295	E072	-17825
chr1	10724441	10724697	E072	-17423
chr1	10725626	10725944	E072	-16176
chr1	10725989	10726476	E072	-15644
chr1	10769615	10769728	E072	27495
chr1	10769817	10769931	E072	27697
chr1	10769960	10770084	E072	27840
chr1	10694645	10695194	E073	-46926
chr1	10723007	10723313	E073	-18807
chr1	10723387	10724295	E073	-17825
chr1	10787785	10788318	E073	45665
chr1	10788327	10788518	E073	46207
chr1	10723387	10724295	E074	-17825
chr1	10725626	10725944	E074	-16176
chr1	10725989	10726476	E074	-15644
chr1	10726487	10726755	E074	-15365
chr1	10695242	10696319	E081	-45801
chr1	10699890	10700675	E081	-41445
chr1	10700718	10700866	E081	-41254
chr1	10700912	10701033	E081	-41087
chr1	10711529	10711737	E081	-30383
chr1	10711855	10712174	E081	-29946
chr1	10722583	10722820	E081	-19300
chr1	10722892	10722989	E081	-19131
chr1	10723007	10723313	E081	-18807
chr1	10723387	10724295	E081	-17825
chr1	10724441	10724697	E081	-17423
chr1	10731201	10731514	E081	-10606
chr1	10731564	10731686	E081	-10434
chr1	10731720	10732119	E081	-10001
chr1	10733491	10733680	E081	-8440
chr1	10737231	10738061	E081	-4059
chr1	10738134	10738259	E081	-3861
chr1	10738329	10738466	E081	-3654
chr1	10738761	10738860	E081	-3260
chr1	10738967	10740291	E081	-1829
chr1	10742209	10742367	E081	89
chr1	10742504	10743011	E081	384
chr1	10743017	10743352	E081	897
chr1	10743354	10743692	E081	1234
chr1	10767551	10767643	E081	25431
chr1	10767773	10767886	E081	25653
chr1	10767907	10768047	E081	25787
chr1	10768182	10768272	E081	26062
chr1	10768635	10768762	E081	26515
chr1	10768980	10769042	E081	26860
chr1	10769113	10769213	E081	26993
chr1	10769418	10769563	E081	27298
chr1	10769615	10769728	E081	27495
chr1	10769817	10769931	E081	27697
chr1	10769960	10770084	E081	27840
chr1	10772662	10772802	E081	30542
chr1	10772825	10773470	E081	30705
chr1	10781765	10781945	E081	39645
chr1	10783815	10784720	E081	41695
chr1	10784730	10785822	E081	42610
chr1	10785830	10785880	E081	43710
chr1	10786271	10786434	E081	44151
chr1	10786546	10786784	E081	44426
chr1	10786891	10787155	E081	44771
chr1	10787288	10787463	E081	45168
chr1	10787530	10787737	E081	45410
chr1	10787785	10788318	E081	45665
chr1	10788327	10788518	E081	46207
chr1	10788672	10789110	E081	46552
chr1	10789132	10789357	E081	47012
chr1	10694645	10695194	E082	-46926
chr1	10695242	10696319	E082	-45801
chr1	10723387	10724295	E082	-17825
chr1	10724441	10724697	E082	-17423
chr1	10738134	10738259	E082	-3861
chr1	10738329	10738466	E082	-3654
chr1	10738761	10738860	E082	-3260
chr1	10742504	10743011	E082	384
chr1	10743776	10743895	E082	1656
chr1	10769113	10769213	E082	26993
chr1	10769418	10769563	E082	27298
chr1	10769615	10769728	E082	27495
chr1	10783815	10784720	E082	41695
chr1	10784730	10785822	E082	42610
chr1	10785830	10785880	E082	43710
chr1	10786271	10786434	E082	44151
chr1	10786546	10786784	E082	44426
chr1	10786891	10787155	E082	44771
chr1	10787288	10787463	E082	45168
chr1	10787530	10787737	E082	45410
chr1	10787785	10788318	E082	45665
chr1	10788327	10788518	E082	46207
chr1	10788672	10789110	E082	46552
chr1	10789132	10789357	E082	47012
chr1	10789510	10789791	E082	47390

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	10753063	10755583	E067	10943
chr1	10753063	10755583	E068	10943
chr1	10755595	10755720	E068	13475
chr1	10753063	10755583	E069	10943
chr1	10755595	10755720	E069	13475
chr1	10698813	10698918	E070	-43202
chr1	10698970	10699106	E070	-43014
chr1	10699129	10699276	E070	-42844
chr1	10753063	10755583	E070	10943
chr1	10755595	10755720	E070	13475
chr1	10753063	10755583	E071	10943
chr1	10755595	10755720	E071	13475
chr1	10753063	10755583	E072	10943
chr1	10755595	10755720	E072	13475
chr1	10753063	10755583	E073	10943
chr1	10755595	10755720	E073	13475
chr1	10753063	10755583	E074	10943
chr1	10698304	10698417	E082	-43703
chr1	10698437	10698582	E082	-43538
chr1	10698617	10698657	E082	-43463
chr1	10698725	10698803	E082	-43317
chr1	10698813	10698918	E082	-43202
chr1	10698970	10699106	E082	-43014
chr1	10699129	10699276	E082	-42844
chr1	10753063	10755583	E082	10943
chr1	10755595	10755720	E082	13475