SNP Detail Info-rs285171

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

MYBL2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0237 (7094/29826,GnomAD)
C==0286 (8339/29118,TOPMED)
C==0263 (1317/5008,1000G)
C==0149 (574/3854,ALSPAC)
C==0164 (608/3708,TWINSUK)

Position: chr20:43709235 (GRCh38.p7) (20q13.12)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 1 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 20	NC_000020.11:g.43709235C>G
GRCh37.p13 chr 20	NC_000020.10:g.42337875C>G

Molecule type	Change	Amino acid[Codon]	SO Term
MYBL2 transcript variant 2	NM_001278610.1:c.	N/A	Intron Variant
MYBL2 transcript variant 1	NM_002466.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.461	G=0.539
1000Genomes	American	Sub	694	C=0.240	G=0.760
1000Genomes	East Asian	Sub	1008	C=0.200	G=0.800
1000Genomes	Europe	Sub	1006	C=0.147	G=0.853
1000Genomes	Global	Study-wide	5008	C=0.263	G=0.737
1000Genomes	South Asian	Sub	978	C=0.200	G=0.800
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.149	G=0.851
The Genome Aggregation Database	African	Sub	8678	C=0.415	G=0.585
The Genome Aggregation Database	American	Sub	836	C=0.320	G=0.680
The Genome Aggregation Database	East Asian	Sub	1612	C=0.178	G=0.822
The Genome Aggregation Database	Europe	Sub	18400	C=0.156	G=0.843
The Genome Aggregation Database	Global	Study-wide	29826	C=0.237	G=0.762
The Genome Aggregation Database	Other	Sub	300	C=0.210	G=0.790
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.286	G=0.713
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.164	G=0.836

PMID	Title	Author	Journal
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

SNP ID	p-value	Traits	Study
rs285171	2.76E-06	alcohol and nictotine co-dependence	20158304

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr20:42337875	IFT52	ENSG00000101052.8	C>G	1.5495e-4	118304	Cerebellar_Hemisphere
Chr20:42337875	SGK2	ENSG00000101049.10	C>G	2.5194e-3	150267	Brain_Spinal_cord_cervical

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

rs285171