SNP Detail Info-rs62196019

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ESPNL : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0115 (3465/29896,GnomAD)
A=0114 (3322/29118,TOPMED)
A=0138 (691/5008,1000G)
A=0175 (674/3854,ALSPAC)
A=0185 (685/3708,TWINSUK)

Position: chr2:238106074 (GRCh38.p7) (2q37.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 35 Enhancers around

Promoter: 10 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.238106074G>A
GRCh37.p13 chr 2	NC_000002.11:g.239014715G>A

Molecule type	Change	Amino acid[Codon]	SO Term
ESPNL transcript variant 1	NM_194312.3:c.	N/A	Intron Variant
ESPNL transcript variant 2	NM_001308370.1:c.	N/A	Genic Upstream Transcript Variant
ESPNL transcript variant X1	XM_011511087.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.945	A=0.055
1000Genomes	American	Sub	694	G=0.830	A=0.170
1000Genomes	East Asian	Sub	1008	G=0.973	A=0.027
1000Genomes	Europe	Sub	1006	G=0.844	A=0.156
1000Genomes	Global	Study-wide	5008	G=0.862	A=0.138
1000Genomes	South Asian	Sub	978	G=0.680	A=0.320
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.825	A=0.175
The Genome Aggregation Database	African	Sub	8716	G=0.924	A=0.076
The Genome Aggregation Database	American	Sub	838	G=0.820	A=0.180
The Genome Aggregation Database	East Asian	Sub	1622	G=0.975	A=0.025
The Genome Aggregation Database	Europe	Sub	18418	G=0.859	A=0.140
The Genome Aggregation Database	Global	Study-wide	29896	G=0.884	A=0.115
The Genome Aggregation Database	Other	Sub	302	G=0.890	A=0.110
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.885	A=0.114
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.815	A=0.185

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs62196019	0.000147	alcohol consumption	23743675

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr2:239014715	SCLY	ENSG00000132330.12	G>A	7.8532e-10	45185	Cerebellum
Chr2:239014715	SCLY	ENSG00000132330.12	G>A	1.0714e-8	45185	Cortex
Chr2:239014715	SCLY	ENSG00000132330.12	G>A	2.0850e-8	45185	Cerebellar_Hemisphere
Chr2:239014715	SCLY	ENSG00000132330.12	G>A	7.2091e-4	45185	Anterior_cingulate_cortex

Probe ID	Position	Gene	beta	p-value
cg03558837	chr2:239029375	ESPNL	0.0707835726348996	6.7992e-17

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	238970839	238970899	E067	-43816
chr2	238990205	238990255	E067	-24460
chr2	238990452	238990751	E067	-23964
chr2	238970839	238970899	E068	-43816
chr2	239017313	239017876	E068	2598
chr2	238970839	238970899	E069	-43816
chr2	238989790	238989866	E069	-24849
chr2	238989941	238990032	E069	-24683
chr2	238990205	238990255	E069	-24460
chr2	238970839	238970899	E070	-43816
chr2	238970839	238970899	E071	-43816
chr2	238989247	238989354	E071	-25361
chr2	238989790	238989866	E071	-24849
chr2	238989941	238990032	E071	-24683
chr2	238990205	238990255	E071	-24460
chr2	238990452	238990751	E071	-23964
chr2	239007116	239007529	E071	-7186
chr2	239017176	239017226	E071	2461
chr2	239017313	239017876	E071	2598
chr2	238989790	238989866	E072	-24849
chr2	238989941	238990032	E072	-24683
chr2	238990205	238990255	E072	-24460
chr2	238990452	238990751	E072	-23964
chr2	239014417	239014467	E072	-248
chr2	239014951	239015001	E072	236
chr2	238970839	238970899	E073	-43816
chr2	239014951	239015001	E073	236
chr2	238989790	238989866	E074	-24849
chr2	238989941	238990032	E074	-24683
chr2	238990452	238990751	E074	-23964
chr2	239017313	239017876	E074	2598
chr2	238994008	238994058	E081	-20657
chr2	238994372	238994803	E081	-19912
chr2	238993565	238993671	E082	-21044
chr2	238994008	238994058	E082	-20657

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	238968700	238970607	E067	-44108
chr2	238968700	238970607	E068	-44108
chr2	238968700	238970607	E069	-44108
chr2	238968700	238970607	E070	-44108
chr2	238968700	238970607	E071	-44108
chr2	238968700	238970607	E072	-44108
chr2	238968700	238970607	E073	-44108
chr2	238968700	238970607	E074	-44108
chr2	238968700	238970607	E081	-44108
chr2	238968700	238970607	E082	-44108

rs62196019