rs605648

Organism: Homo sapiens

Alleles: T>C / T>G

Gene : Feature

C8B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0151 (4549/29956,GnomAD)
T==0167 (4872/29118,TOPMED)
C=0170 (2215/13006,GO-ESP)
T==0120 (599/5008,1000G)
T==0146 (562/3854,ALSPAC)
T==0148 (547/3708,TWINSUK)

Position: chr1:56929578 (GRCh38.p7) (1p32.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 157 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.56929578T>C
GRCh38.p7 chr 1	NC_000001.11:g.56929578T>G
GRCh37.p13 chr 1	NC_000001.10:g.57395251T>C
GRCh37.p13 chr 1	NC_000001.10:g.57395251T>G
C8B RefSeqGene	LRG_31
C8B RefSeqGene	LRG_31

Gene: C8B, complement component 8, beta polypeptide(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
C8B transcript variant 1	NM_000066.3:c.	N/A	Intron Variant
C8B transcript variant 2	NM_001278543.1:c.	N/A	Intron Variant
C8B transcript variant 3	NM_001278544.1:c.	N/A	Intron Variant
C8B transcript variant X1	XM_017002235.1:c.	N/A	Intron Variant
C8B transcript variant X2	XR_001737397.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.216	C=0.784
1000Genomes	American	Sub	694	T=0.110	C=0.890
1000Genomes	East Asian	Sub	1008	T=0.069	C=0.931
1000Genomes	Europe	Sub	1006	T=0.139	C=0.861
1000Genomes	Global	Study-wide	5008	T=0.120	C=0.880
1000Genomes	South Asian	Sub	978	T=0.030	C=0.970
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.146	C=0.854
The Genome Aggregation Database	African	Sub	8710	T=0.213	C=0.787
The Genome Aggregation Database	American	Sub	838	T=0.070	C=0.930
The Genome Aggregation Database	East Asian	Sub	1616	T=0.069	C=0.931
The Genome Aggregation Database	Europe	Sub	18490	T=0.134	C=0.865
The Genome Aggregation Database	Global	Study-wide	29956	T=0.151	C=0.848
The Genome Aggregation Database	Other	Sub	302	T=0.150	C=0.850
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.167	C=0.832
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.148	C=0.852

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs605648	0.000894	alcohol dependence	24277619

eQTL of rs605648 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 rs605648 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 )
chr1	34342662	34342906	E067	-32647
chr1	34351996	34352471	E067	-23082
chr1	34358698	34358778	E067	-16775
chr1	34358817	34359067	E067	-16486
chr1	34359086	34359387	E067	-16166
chr1	34367893	34368489	E067	-7064
chr1	34368500	34368768	E067	-6785
chr1	34368890	34369110	E067	-6443
chr1	34373839	34373889	E067	-1664
chr1	34373974	34374177	E067	-1376
chr1	34374204	34374258	E067	-1295
chr1	34374324	34374722	E067	-831
chr1	34374777	34374826	E067	-727
chr1	34391239	34391482	E067	15686
chr1	34396173	34396420	E067	20620
chr1	34407181	34407231	E067	31628
chr1	34340278	34340375	E068	-35178
chr1	34351996	34352471	E068	-23082
chr1	34358698	34358778	E068	-16775
chr1	34358817	34359067	E068	-16486
chr1	34359086	34359387	E068	-16166
chr1	34373839	34373889	E068	-1664
chr1	34373974	34374177	E068	-1376
chr1	34374204	34374258	E068	-1295
chr1	34374324	34374722	E068	-831
chr1	34374777	34374826	E068	-727
chr1	34396173	34396420	E068	20620
chr1	34396494	34396632	E068	20941
chr1	34407181	34407231	E068	31628
chr1	34407800	34407895	E068	32247
chr1	34423496	34423768	E068	47943
chr1	34424620	34424715	E068	49067
chr1	34424776	34424903	E068	49223
chr1	34351996	34352471	E069	-23082
chr1	34358817	34359067	E069	-16486
chr1	34359086	34359387	E069	-16166
chr1	34362921	34363085	E069	-12468
chr1	34363137	34363241	E069	-12312
chr1	34363686	34363926	E069	-11627
chr1	34364119	34364376	E069	-11177
chr1	34364566	34364731	E069	-10822
chr1	34367893	34368489	E069	-7064
chr1	34368500	34368768	E069	-6785
chr1	34373974	34374177	E069	-1376
chr1	34374204	34374258	E069	-1295
chr1	34374324	34374722	E069	-831
chr1	34374777	34374826	E069	-727
chr1	34391239	34391482	E069	15686
chr1	34396173	34396420	E069	20620
chr1	34396494	34396632	E069	20941
chr1	34415322	34415372	E069	39769
chr1	34424776	34424903	E069	49223
chr1	34332014	34332146	E070	-43407
chr1	34363686	34363926	E070	-11627
chr1	34364119	34364376	E070	-11177
chr1	34367893	34368489	E070	-7064
chr1	34368500	34368768	E070	-6785
chr1	34368890	34369110	E070	-6443
chr1	34338448	34338592	E071	-36961
chr1	34340278	34340375	E071	-35178
chr1	34340417	34340588	E071	-34965
chr1	34341617	34341696	E071	-33857
chr1	34351996	34352471	E071	-23082
chr1	34358817	34359067	E071	-16486
chr1	34359086	34359387	E071	-16166
chr1	34364119	34364376	E071	-11177
chr1	34364566	34364731	E071	-10822
chr1	34365008	34365124	E071	-10429
chr1	34365430	34365486	E071	-10067
chr1	34367893	34368489	E071	-7064
chr1	34368500	34368768	E071	-6785
chr1	34368890	34369110	E071	-6443
chr1	34373839	34373889	E071	-1664
chr1	34373974	34374177	E071	-1376
chr1	34374204	34374258	E071	-1295
chr1	34374324	34374722	E071	-831
chr1	34374777	34374826	E071	-727
chr1	34396173	34396420	E071	20620
chr1	34396494	34396632	E071	20941
chr1	34406191	34406325	E071	30638
chr1	34406368	34406522	E071	30815
chr1	34407181	34407231	E071	31628
chr1	34415322	34415372	E071	39769
chr1	34340278	34340375	E072	-35178
chr1	34340417	34340588	E072	-34965
chr1	34341617	34341696	E072	-33857
chr1	34342662	34342906	E072	-32647
chr1	34358698	34358778	E072	-16775
chr1	34358817	34359067	E072	-16486
chr1	34359086	34359387	E072	-16166
chr1	34362921	34363085	E072	-12468
chr1	34363137	34363241	E072	-12312
chr1	34363686	34363926	E072	-11627
chr1	34364119	34364376	E072	-11177
chr1	34364566	34364731	E072	-10822
chr1	34365430	34365486	E072	-10067
chr1	34367893	34368489	E072	-7064
chr1	34368500	34368768	E072	-6785
chr1	34368890	34369110	E072	-6443
chr1	34373974	34374177	E072	-1376
chr1	34374204	34374258	E072	-1295
chr1	34374324	34374722	E072	-831
chr1	34374777	34374826	E072	-727
chr1	34396173	34396420	E072	20620
chr1	34396494	34396632	E072	20941
chr1	34423496	34423768	E072	47943
chr1	34358698	34358778	E073	-16775
chr1	34358817	34359067	E073	-16486
chr1	34359086	34359387	E073	-16166
chr1	34373974	34374177	E073	-1376
chr1	34374204	34374258	E073	-1295
chr1	34374324	34374722	E073	-831
chr1	34374777	34374826	E073	-727
chr1	34423496	34423768	E073	47943
chr1	34351996	34352471	E074	-23082
chr1	34363686	34363926	E074	-11627
chr1	34364119	34364376	E074	-11177
chr1	34364566	34364731	E074	-10822
chr1	34365008	34365124	E074	-10429
chr1	34368890	34369110	E074	-6443
chr1	34373974	34374177	E074	-1376
chr1	34374204	34374258	E074	-1295
chr1	34374324	34374722	E074	-831
chr1	34374777	34374826	E074	-727
chr1	34396173	34396420	E074	20620
chr1	34396494	34396632	E074	20941
chr1	34406191	34406325	E074	30638
chr1	34406368	34406522	E074	30815
chr1	34332014	34332146	E081	-43407
chr1	34333602	34333728	E081	-41825
chr1	34351996	34352471	E081	-23082
chr1	34358698	34358778	E081	-16775
chr1	34358817	34359067	E081	-16486
chr1	34359086	34359387	E081	-16166
chr1	34367893	34368489	E081	-7064
chr1	34368500	34368768	E081	-6785
chr1	34368890	34369110	E081	-6443
chr1	34373974	34374177	E081	-1376
chr1	34374204	34374258	E081	-1295
chr1	34374324	34374722	E081	-831
chr1	34420847	34420901	E081	45294
chr1	34422012	34422119	E081	46459
chr1	34423496	34423768	E081	47943
chr1	34332014	34332146	E082	-43407
chr1	34340417	34340588	E082	-34965
chr1	34351996	34352471	E082	-23082
chr1	34358817	34359067	E082	-16486
chr1	34359086	34359387	E082	-16166
chr1	34363686	34363926	E082	-11627
chr1	34364119	34364376	E082	-11177
chr1	34367893	34368489	E082	-7064
chr1	34368500	34368768	E082	-6785
chr1	34368890	34369110	E082	-6443
chr1	34371831	34372051	E082	-3502
chr1	34374204	34374258	E082	-1295
chr1	34422012	34422119	E082	46459
chr1	34423496	34423768	E082	47943