SNP Detail Info-rs17421757

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.158602089G>A
GRCh38.p7 chr 2	NC_000002.12:g.158602089G>C
GRCh37.p13 chr 2	NC_000002.11:g.159458601G>A
GRCh37.p13 chr 2	NC_000002.11:g.159458601G>C

Gene: PKP4, plakophilin 4(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PKP4 transcript variant 2	NM_001005476.2:c.	N/A	Intron Variant
PKP4 transcript variant 3	NM_001304969.1:c.	N/A	Intron Variant
PKP4 transcript variant 4	NM_001304970.1:c.	N/A	Intron Variant
PKP4 transcript variant 5	NM_001304971.1:c.	N/A	Intron Variant
PKP4 transcript variant 1	NM_003628.4:c.	N/A	Intron Variant
PKP4 transcript variant X1	XM_011512016.1:c.	N/A	Intron Variant
PKP4 transcript variant X4	XM_011512017.1:c.	N/A	Intron Variant
PKP4 transcript variant X5	XM_011512018.1:c.	N/A	Intron Variant
PKP4 transcript variant X6	XM_011512019.1:c.	N/A	Intron Variant
PKP4 transcript variant X10	XM_011512020.2:c.	N/A	Intron Variant
PKP4 transcript variant X11	XM_011512021.2:c.	N/A	Intron Variant
PKP4 transcript variant X14	XM_011512022.1:c.	N/A	Intron Variant
PKP4 transcript variant X23	XM_011512026.2:c.	N/A	Intron Variant
PKP4 transcript variant X2	XM_017005122.1:c.	N/A	Intron Variant
PKP4 transcript variant X3	XM_017005123.1:c.	N/A	Intron Variant
PKP4 transcript variant X7	XM_017005124.1:c.	N/A	Intron Variant
PKP4 transcript variant X8	XM_017005125.1:c.	N/A	Intron Variant
PKP4 transcript variant X9	XM_017005126.1:c.	N/A	Intron Variant
PKP4 transcript variant X12	XM_017005127.1:c.	N/A	Intron Variant
PKP4 transcript variant X13	XM_017005128.1:c.	N/A	Intron Variant
PKP4 transcript variant X15	XM_017005129.1:c.	N/A	Intron Variant
PKP4 transcript variant X16	XM_017005130.1:c.	N/A	Intron Variant
PKP4 transcript variant X22	XM_017005132.1:c.	N/A	Intron Variant
PKP4 transcript variant X24	XM_017005133.1:c.	N/A	Intron Variant
PKP4 transcript variant X25	XM_017005134.1:c.	N/A	Intron Variant
PKP4 transcript variant X26	XM_017005135.1:c.	N/A	Intron Variant
PKP4 transcript variant X20	XM_011512025.1:c.	N/A	Genic Upstream Transcript Variant
PKP4 transcript variant X21	XM_017005131.1:c.	N/A	Genic Upstream Transcript Variant
PKP4 transcript variant X17	XR_001739004.1:n.	N/A	Intron Variant
PKP4 transcript variant X18	XR_001739005.1:n.	N/A	Intron Variant
PKP4 transcript variant X19	XR_001739006.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.993	A=0.007
1000Genomes	American	Sub	694	G=0.930	A=0.070
1000Genomes	East Asian	Sub	1008	G=0.949	A=0.051
1000Genomes	Europe	Sub	1006	G=0.880	A=0.120
1000Genomes	Global	Study-wide	5008	G=0.932	A=0.068
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=0.895	A=0.105
The Genome Aggregation Database	African	Sub	8718	G=0.978	C=0.000
The Genome Aggregation Database	American	Sub	836	G=0.930	C=0.00,
The Genome Aggregation Database	East Asian	Sub	1618	G=0.966	C=0.000
The Genome Aggregation Database	Europe	Sub	18480	G=0.893	C=0.000
The Genome Aggregation Database	Global	Study-wide	29954	G=0.921	C=0.000
The Genome Aggregation Database	Other	Sub	302	G=0.780	C=0.00,
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.885	A=0.115

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs17421757	0.00084	alcohol dependence	20201924

eQTL of rs17421757 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 rs17421757 in Fetal Brain

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

rs17421757

Genomic Coordinates

Gene: PKP4, plakophilin 4(plus strand)

Population Frequency

P-Value

eQTL of rs17421757 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs17421757 in Fetal Brain

Genomic View

Chromatin Interaction