rs10206195

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

UXS1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0266 (7978/29904,GnomAD)
T==0245 (7161/29116,TOPMED)
T==0283 (1418/5008,1000G)
T==0212 (817/3854,ALSPAC)
T==0216 (802/3708,TWINSUK)

Position: chr2:106097582 (GRCh38.p7) (2q12.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 33 Enhancers around

Promoter: 32 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.106097582T>C
GRCh37.p13 chr 2	NC_000002.11:g.106714038T>C

Molecule type	Change	Amino acid[Codon]	SO Term
UXS1 transcript variant 1	NM_001253875.1:c.	N/A	Intron Variant
UXS1 transcript variant 3	NM_001253876.1:c.	N/A	Intron Variant
UXS1 transcript variant 2	NM_025076.4:c.	N/A	Intron Variant
UXS1 transcript variant 4	NR_045607.1:n.	N/A	Intron Variant
UXS1 transcript variant X6	XM_006712775.3:c.	N/A	Intron Variant
UXS1 transcript variant X1	XM_011511902.2:c.	N/A	Intron Variant
UXS1 transcript variant X2	XM_011511903.2:c.	N/A	Intron Variant
UXS1 transcript variant X5	XM_011511904.2:c.	N/A	Intron Variant
UXS1 transcript variant X3	XM_017005008.1:c.	N/A	Intron Variant
UXS1 transcript variant X4	XM_017005009.1:c.	N/A	Intron Variant
UXS1 transcript variant X7	XM_017005010.1:c.	N/A	Intron Variant
UXS1 transcript variant X8	XM_017005011.1:c.	N/A	Intron Variant
UXS1 transcript variant X9	XM_017005012.1:c.	N/A	Intron Variant
UXS1 transcript variant X10	XM_017005013.1:c.	N/A	Intron Variant
UXS1 transcript variant X11	XM_017005014.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.243	C=0.757
1000Genomes	American	Sub	694	T=0.360	C=0.640
1000Genomes	East Asian	Sub	1008	T=0.395	C=0.605
1000Genomes	Europe	Sub	1006	T=0.229	C=0.771
1000Genomes	Global	Study-wide	5008	T=0.283	C=0.717
1000Genomes	South Asian	Sub	978	T=0.220	C=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.212	C=0.788
The Genome Aggregation Database	African	Sub	8708	T=0.240	C=0.760
The Genome Aggregation Database	American	Sub	832	T=0.410	C=0.590
The Genome Aggregation Database	East Asian	Sub	1618	T=0.397	C=0.603
The Genome Aggregation Database	Europe	Sub	18444	T=0.262	C=0.737
The Genome Aggregation Database	Global	Study-wide	29904	T=0.266	C=0.733
The Genome Aggregation Database	Other	Sub	302	T=0.200	C=0.800
Trans-Omics for Precision Medicine	Global	Study-wide	29116	T=0.245	C=0.754
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.216	C=0.784

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs10206195	0.00091	alcohol dependence	21314694

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr2:106714038	C2orf40	ENSG00000119147.5	T>C	1.0180e-10	34336	Hypothalamus
Chr2:106714038	C2orf40	ENSG00000119147.5	T>C	2.4005e-8	34336	Caudate_basal_ganglia

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

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	106724907	106725111	E067	10869
chr2	106725196	106725329	E067	11158
chr2	106725375	106725533	E067	11337
chr2	106746817	106747386	E067	32779
chr2	106701826	106702416	E068	-11622
chr2	106759292	106759410	E068	45254
chr2	106746671	106746731	E069	32633
chr2	106759292	106759410	E069	45254
chr2	106706168	106706240	E071	-7798
chr2	106706250	106706331	E071	-7707
chr2	106706358	106706418	E071	-7620
chr2	106724907	106725111	E071	10869
chr2	106725196	106725329	E071	11158
chr2	106725375	106725533	E071	11337
chr2	106759292	106759410	E071	45254
chr2	106724907	106725111	E072	10869
chr2	106725196	106725329	E072	11158
chr2	106759292	106759410	E072	45254
chr2	106755483	106756113	E073	41445
chr2	106756153	106756258	E073	42115
chr2	106724907	106725111	E074	10869
chr2	106725196	106725329	E074	11158
chr2	106725375	106725533	E074	11337
chr2	106725569	106725657	E074	11531
chr2	106731640	106732125	E074	17602
chr2	106759292	106759410	E074	45254
chr2	106669596	106670138	E081	-43900
chr2	106671310	106671430	E081	-42608
chr2	106671522	106671589	E081	-42449
chr2	106709450	106709606	E081	-4432
chr2	106671310	106671430	E082	-42608
chr2	106684981	106685258	E082	-28780
chr2	106685289	106685549	E082	-28489

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	106681551	106681826	E067	-32212
chr2	106681831	106681887	E067	-32151
chr2	106681894	106682177	E067	-31861
chr2	106682217	106682979	E067	-31059
chr2	106681551	106681826	E068	-32212
chr2	106681831	106681887	E068	-32151
chr2	106681894	106682177	E068	-31861
chr2	106682217	106682979	E068	-31059
chr2	106681551	106681826	E069	-32212
chr2	106681831	106681887	E069	-32151
chr2	106681894	106682177	E069	-31861
chr2	106681551	106681826	E070	-32212
chr2	106681894	106682177	E070	-31861
chr2	106681551	106681826	E071	-32212
chr2	106681831	106681887	E071	-32151
chr2	106681894	106682177	E071	-31861
chr2	106682217	106682979	E071	-31059
chr2	106681551	106681826	E072	-32212
chr2	106681831	106681887	E072	-32151
chr2	106681894	106682177	E072	-31861
chr2	106681551	106681826	E073	-32212
chr2	106681831	106681887	E073	-32151
chr2	106681894	106682177	E073	-31861
chr2	106682217	106682979	E073	-31059
chr2	106681831	106681887	E074	-32151
chr2	106681894	106682177	E074	-31861
chr2	106682217	106682979	E074	-31059
chr2	106682217	106682979	E081	-31059
chr2	106681551	106681826	E082	-32212
chr2	106681831	106681887	E082	-32151
chr2	106681894	106682177	E082	-31861
chr2	106682217	106682979	E082	-31059