SNP Detail Info-rs284322

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.10665441G>A
GRCh38.p7 chr 1	NC_000001.11:g.10665441G>T
GRCh37.p13 chr 1	NC_000001.10:g.10725498G>A
GRCh37.p13 chr 1	NC_000001.10:g.10725498G>T

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

Molecule type	Change	Amino acid[Codon]	SO Term
CASZ1 transcript variant 1	NM_001079843.2:c....NM_001079843.2:c.147C>T	D [GAC]> D [GAT]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform a	NP_001073312.1:p....NP_001073312.1:p.Asp49=	D [Asp]> D [Asp]	Synonymous Variant
CASZ1 transcript variant 1	NM_001079843.2:c....NM_001079843.2:c.147C>A	D [GAC]> E [GAA]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform a	NP_001073312.1:p....NP_001073312.1:p.Asp49Glu	D [Asp]> E [Glu]	Missense Variant
CASZ1 transcript variant 2	NM_017766.4:c.147C>T	D [GAC]> D [GAT]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform b	NP_060236.3:p.Asp49=	D [Asp]> D [Asp]	Synonymous Variant
CASZ1 transcript variant 2	NM_017766.4:c.147C>A	D [GAC]> E [GAA]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform b	NP_060236.3:p.Asp...NP_060236.3:p.Asp49Glu	D [Asp]> E [Glu]	Missense Variant
CASZ1 transcript variant X1	XM_017001539.1:c....XM_017001539.1:c.219C>T	D [GAC]> D [GAT]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X1	XP_016857028.1:p....XP_016857028.1:p.Asp73=	D [Asp]> D [Asp]	Synonymous Variant
CASZ1 transcript variant X1	XM_017001539.1:c....XM_017001539.1:c.219C>A	D [GAC]> E [GAA]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X1	XP_016857028.1:p....XP_016857028.1:p.Asp73Glu	D [Asp]> E [Glu]	Missense Variant
CASZ1 transcript variant X2	XM_017001540.1:c....XM_017001540.1:c.147C>T	D [GAC]> D [GAT]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X2	XP_016857029.1:p....XP_016857029.1:p.Asp49=	D [Asp]> D [Asp]	Synonymous Variant
CASZ1 transcript variant X2	XM_017001540.1:c....XM_017001540.1:c.147C>A	D [GAC]> E [GAA]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X2	XP_016857029.1:p....XP_016857029.1:p.Asp49Glu	D [Asp]> E [Glu]	Missense Variant
CASZ1 transcript variant X3	XM_017001541.1:c....XM_017001541.1:c.147C>T	D [GAC]> D [GAT]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X2	XP_016857030.1:p....XP_016857030.1:p.Asp49=	D [Asp]> D [Asp]	Synonymous Variant
CASZ1 transcript variant X3	XM_017001541.1:c....XM_017001541.1:c.147C>A	D [GAC]> E [GAA]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X2	XP_016857030.1:p....XP_016857030.1:p.Asp49Glu	D [Asp]> E [Glu]	Missense Variant
CASZ1 transcript variant X4	XM_005263479.3:c....XM_005263479.3:c.219C>T	D [GAC]> D [GAT]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X3	XP_005263536.1:p....XP_005263536.1:p.Asp73=	D [Asp]> D [Asp]	Synonymous Variant
CASZ1 transcript variant X4	XM_005263479.3:c....XM_005263479.3:c.219C>A	D [GAC]> E [GAA]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X3	XP_005263536.1:p....XP_005263536.1:p.Asp73Glu	D [Asp]> E [Glu]	Missense Variant
CASZ1 transcript variant X5	XM_011541635.2:c....XM_011541635.2:c.219C>T	D [GAC]> D [GAT]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X4	XP_011539937.1:p....XP_011539937.1:p.Asp73=	D [Asp]> D [Asp]	Synonymous Variant
CASZ1 transcript variant X5	XM_011541635.2:c....XM_011541635.2:c.219C>A	D [GAC]> E [GAA]	Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X4	XP_011539937.1:p....XP_011539937.1:p.Asp73Glu	D [Asp]> E [Glu]	Missense Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.778	A=0.222
1000Genomes	American	Sub	694	G=0.860	A=0.140
1000Genomes	East Asian	Sub	1008	G=0.850	A=0.150
1000Genomes	Europe	Sub	1006	G=0.831	A=0.169
1000Genomes	Global	Study-wide	5008	G=0.820	A=0.180
1000Genomes	South Asian	Sub	978	G=0.810	A=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.863	A=0.137
The Exome Aggregation Consortium	American	Sub	20648	G=0.815	A=0.184
The Exome Aggregation Consortium	Asian	Sub	24736	G=0.829	A=0.170
The Exome Aggregation Consortium	Europe	Sub	70840	G=0.829	A=0.170
The Exome Aggregation Consortium	Global	Study-wide	117076	G=0.826	A=0.173
The Exome Aggregation Consortium	Other	Sub	852	G=0.780	A=0.220
The Genome Aggregation Database	African	Sub	8712	G=0.801	A=0.199
The Genome Aggregation Database	American	Sub	838	G=0.850	A=0.150
The Genome Aggregation Database	East Asian	Sub	1620	G=0.812	A=0.188
The Genome Aggregation Database	Europe	Sub	18466	G=0.822	A=0.177
The Genome Aggregation Database	Global	Study-wide	29938	G=0.816	A=0.184
The Genome Aggregation Database	Other	Sub	302	G=0.790	A=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.818	A=0.181
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.852	A=0.148

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
rs284322	5.54E-06	alcohol dependence (age at onset)	24962325

eQTL of rs284322 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 rs284322 in Fetal Brain

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

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	58088490	58088591	E067	33549
chr1	58088746	58089091	E067	33805
chr1	58064772	58064848	E070	9831
chr1	58064894	58065477	E070	9953
chr1	58065499	58065733	E070	10558
chr1	58065833	58065926	E070	10892
chr1	58088490	58088591	E071	33549
chr1	58088746	58089091	E071	33805
chr1	58089277	58089375	E071	34336
chr1	58064459	58064636	E081	9518
chr1	58064772	58064848	E081	9831
chr1	58064894	58065477	E081	9953
chr1	58065499	58065733	E081	10558
chr1	58065833	58065926	E081	10892
chr1	58065937	58066418	E081	10996
chr1	58086386	58086588	E081	31445
chr1	58086747	58086830	E081	31806
chr1	58086864	58086950	E081	31923
chr1	58087003	58087078	E081	32062
chr1	58087616	58087758	E081	32675
chr1	58088490	58088591	E081	33549
chr1	58088746	58089091	E081	33805
chr1	58089277	58089375	E081	34336
chr1	58089519	58089685	E081	34578
chr1	58098743	58098819	E081	43802
chr1	58098828	58099030	E081	43887
chr1	58099035	58099190	E081	44094
chr1	58064772	58064848	E082	9831
chr1	58064894	58065477	E082	9953
chr1	58086206	58086381	E082	31265
chr1	58086386	58086588	E082	31445
chr1	58088490	58088591	E082	33549
chr1	58088746	58089091	E082	33805
chr1	58089277	58089375	E082	34336
chr1	58089519	58089685	E082	34578
chr1	58098743	58098819	E082	43802
chr1	58098828	58099030	E082	43887
chr1	58099035	58099190	E082	44094

rs284322

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs284322 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs284322 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)