rs7700754

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

FYB : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0322 (9664/29942,GnomAD)
A=0377 (10996/29118,TOPMED)
A=0351 (1760/5008,1000G)
A=0202 (779/3854,ALSPAC)
A=0202 (750/3708,TWINSUK)

Position: chr5:39252920 (GRCh38.p7) (5p13.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.39252920G>A
GRCh37.p13 chr 5	NC_000005.9:g.39253022G>A
FYB1 RefSeqGene	NG_029596.1:g.22738C>T

Gene: FYB, FYN binding protein(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FYB1 transcript variant 3	NM_001243093.1:c.	N/A	Intron Variant
FYB transcript variant 1	NM_001465.4:c.	N/A	Genic Upstream Transcript Variant
FYB transcript variant 2	NM_199335.3:c.	N/A	Genic Upstream Transcript Variant
FYB transcript variant X4	XM_006714464.2:c.	N/A	Intron Variant
FYB1 transcript variant X5	XM_011514010.1:c.	N/A	Intron Variant
FYB1 transcript variant X6	XM_011514011.2:c.	N/A	Intron Variant
FYB transcript variant X9	XM_011514012.2:c.	N/A	Intron Variant
FYB transcript variant X10	XM_011514013.2:c.	N/A	Intron Variant
FYB transcript variant X2	XM_006714465.2:c.	N/A	Genic Upstream Transcript Variant
FYB1 transcript variant X4	XM_006714466.2:c.	N/A	Genic Upstream Transcript Variant
FYB transcript variant X1	XM_011514008.2:c.	N/A	Genic Upstream Transcript Variant
FYB1 transcript variant X2	XM_011514009.1:c.	N/A	Genic Upstream Transcript Variant
FYB1 transcript variant X7	XM_017009316.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.393	A=0.607
1000Genomes	American	Sub	694	G=0.670	A=0.330
1000Genomes	East Asian	Sub	1008	G=0.778	A=0.222
1000Genomes	Europe	Sub	1006	G=0.769	A=0.231
1000Genomes	Global	Study-wide	5008	G=0.649	A=0.351
1000Genomes	South Asian	Sub	978	G=0.720	A=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.798	A=0.202
The Genome Aggregation Database	African	Sub	8708	G=0.448	A=0.552
The Genome Aggregation Database	American	Sub	836	G=0.690	A=0.310
The Genome Aggregation Database	East Asian	Sub	1618	G=0.738	A=0.262
The Genome Aggregation Database	Europe	Sub	18478	G=0.777	A=0.222
The Genome Aggregation Database	Global	Study-wide	29942	G=0.677	A=0.322
The Genome Aggregation Database	Other	Sub	302	G=0.780	A=0.220
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.622	A=0.377
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.798	A=0.202

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

P-Value

SNP ID	p-value	Traits	Study
rs7700754	1.89E-05	alcohol and nictotine co-dependence	20158304

eQTL of rs7700754 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 rs7700754 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 )
chr5	39283358	39283876	E071	30336
chr5	39212463	39212523	E074	-40499
chr5	39212582	39212746	E074	-40276
chr5	39283358	39283876	E074	30336
chr5	39219568	39219915	E081	-33107
chr5	39224298	39224829	E081	-28193