rs10114679

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

TRPM3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0049 (1475/29984,GnomAD)
T=0071 (2069/29118,TOPMED)
T=0055 (276/5008,1000G)
T=0041 (158/3854,ALSPAC)
T=0044 (162/3708,TWINSUK)

Position: chr9:70609644 (GRCh38.p7) (9q21.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 141 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 9	NC_000009.12:g.70609644C>T
GRCh37.p13 chr 9	NC_000009.11:g.73224560C>T

Gene: TRPM3, transient receptor potential cation channel subfamily M member 3(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TRPM3 transcript variant 9	NM_001007471.2:c.	N/A	Intron Variant
TRPM3 transcript variant 1	NM_020952.4:c.	N/A	Intron Variant
TRPM3 transcript variant 2	NM_024971.5:c.	N/A	Intron Variant
TRPM3 transcript variant 3	NM_206944.3:c.	N/A	Intron Variant
TRPM3 transcript variant 4	NM_206945.3:c.	N/A	Intron Variant
TRPM3 transcript variant 5	NM_206946.3:c.	N/A	Intron Variant
TRPM3 transcript variant 6	NM_206947.3:c.	N/A	Intron Variant
TRPM3 transcript variant 8	NM_001007470.1:c.	N/A	Genic Downstream Transcript Variant
TRPM3 transcript variant 7	NM_206948.2:c.	N/A	Genic Downstream Transcript Variant
TRPM3 transcript variant X1	XM_011519035.2:c.	N/A	Intron Variant
TRPM3 transcript variant X10	XM_011519036.2:c.	N/A	Intron Variant
TRPM3 transcript variant X4	XM_011519037.2:c.	N/A	Intron Variant
TRPM3 transcript variant X5	XM_011519038.2:c.	N/A	Intron Variant
TRPM3 transcript variant X7	XM_011519039.2:c.	N/A	Intron Variant
TRPM3 transcript variant X8	XM_011519040.2:c.	N/A	Intron Variant
TRPM3 transcript variant X9	XM_011519041.2:c.	N/A	Intron Variant
TRPM3 transcript variant X11	XM_011519042.2:c.	N/A	Intron Variant
TRPM3 transcript variant X12	XM_011519043.2:c.	N/A	Intron Variant
TRPM3 transcript variant X15	XM_011519044.2:c.	N/A	Intron Variant
TRPM3 transcript variant X18	XM_011519045.2:c.	N/A	Intron Variant
TRPM3 transcript variant X14	XM_011519046.2:c.	N/A	Intron Variant
TRPM3 transcript variant X26	XM_011519047.2:c.	N/A	Intron Variant
TRPM3 transcript variant X2	XM_017015141.1:c.	N/A	Intron Variant
TRPM3 transcript variant X3	XM_017015142.1:c.	N/A	Intron Variant
TRPM3 transcript variant X6	XM_017015143.1:c.	N/A	Intron Variant
TRPM3 transcript variant X16	XM_017015144.1:c.	N/A	Intron Variant
TRPM3 transcript variant X17	XM_017015145.1:c.	N/A	Intron Variant
TRPM3 transcript variant X18	XM_017015146.1:c.	N/A	Intron Variant
TRPM3 transcript variant X19	XM_017015147.1:c.	N/A	Intron Variant
TRPM3 transcript variant X20	XM_017015148.1:c.	N/A	Intron Variant
TRPM3 transcript variant X21	XM_017015149.1:c.	N/A	Intron Variant
TRPM3 transcript variant X22	XM_017015150.1:c.	N/A	Intron Variant
TRPM3 transcript variant X23	XM_017015151.1:c.	N/A	Intron Variant
TRPM3 transcript variant X24	XM_017015152.1:c.	N/A	Intron Variant
TRPM3 transcript variant X25	XM_017015153.1:c.	N/A	Intron Variant
TRPM3 transcript variant X27	XM_017015154.1:c.	N/A	Intron Variant
TRPM3 transcript variant X28	XM_017015155.1:c.	N/A	Intron Variant
TRPM3 transcript variant X1	XM_017015156.1:c.	N/A	Intron Variant
TRPM3 transcript variant X30	XM_017015157.1:c.	N/A	Intron Variant
TRPM3 transcript variant X31	XM_017015158.1:c.	N/A	Intron Variant
TRPM3 transcript variant X32	XM_017015159.1:c.	N/A	Intron Variant
TRPM3 transcript variant X33	XM_017015160.1:c.	N/A	Intron Variant
TRPM3 transcript variant X34	XM_017015161.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.894	T=0.106
1000Genomes	American	Sub	694	C=0.950	T=0.050
1000Genomes	East Asian	Sub	1008	C=0.996	T=0.004
1000Genomes	Europe	Sub	1006	C=0.942	T=0.058
1000Genomes	Global	Study-wide	5008	C=0.945	T=0.055
1000Genomes	South Asian	Sub	978	C=0.960	T=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.959	T=0.041
The Genome Aggregation Database	African	Sub	8728	C=0.906	T=0.094
The Genome Aggregation Database	American	Sub	838	C=0.970	T=0.030
The Genome Aggregation Database	East Asian	Sub	1620	C=1.000	T=0.000
The Genome Aggregation Database	Europe	Sub	18496	C=0.967	T=0.032
The Genome Aggregation Database	Global	Study-wide	29984	C=0.950	T=0.049
The Genome Aggregation Database	Other	Sub	302	C=0.950	T=0.050
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.928	T=0.071
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.956	T=0.044

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs10114679	0.00052	alcohol dependence	20201924

eQTL of rs10114679 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 rs10114679 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 )
chr9	73200693	73200803	E067	-23757
chr9	73200871	73200921	E067	-23639
chr9	73200931	73200981	E067	-23579
chr9	73201086	73201146	E067	-23414
chr9	73201220	73201270	E067	-23290
chr9	73201275	73201370	E067	-23190
chr9	73201378	73201899	E067	-22661
chr9	73201947	73202674	E067	-21886
chr9	73202703	73203049	E067	-21511
chr9	73214927	73215227	E067	-9333
chr9	73215228	73217820	E067	-6740
chr9	73229535	73229692	E067	4975
chr9	73229702	73230880	E067	5142
chr9	73231068	73231118	E067	6508
chr9	73231185	73231444	E067	6625
chr9	73231480	73231791	E067	6920
chr9	73188728	73188815	E068	-35745
chr9	73188900	73189844	E068	-34716
chr9	73201378	73201899	E068	-22661
chr9	73201947	73202674	E068	-21886
chr9	73202703	73203049	E068	-21511
chr9	73203406	73203649	E068	-20911
chr9	73203660	73204250	E068	-20310
chr9	73204299	73205655	E068	-18905
chr9	73210182	73210453	E068	-14107
chr9	73215228	73217820	E068	-6740
chr9	73228796	73228840	E068	4236
chr9	73228868	73228945	E068	4308
chr9	73229053	73229107	E068	4493
chr9	73229153	73229207	E068	4593
chr9	73229535	73229692	E068	4975
chr9	73229702	73230880	E068	5142
chr9	73188728	73188815	E069	-35745
chr9	73188900	73189844	E069	-34716
chr9	73201378	73201899	E069	-22661
chr9	73201947	73202674	E069	-21886
chr9	73202703	73203049	E069	-21511
chr9	73203660	73204250	E069	-20310
chr9	73207279	73207359	E069	-17201
chr9	73214927	73215227	E069	-9333
chr9	73215228	73217820	E069	-6740
chr9	73224374	73225611	E069	0
chr9	73229535	73229692	E069	4975
chr9	73201220	73201270	E070	-23290
chr9	73201275	73201370	E070	-23190
chr9	73201378	73201899	E070	-22661
chr9	73201947	73202674	E070	-21886
chr9	73215228	73217820	E070	-6740
chr9	73184053	73184236	E071	-40324
chr9	73184290	73184706	E071	-39854
chr9	73188369	73188503	E071	-36057
chr9	73188728	73188815	E071	-35745
chr9	73188900	73189844	E071	-34716
chr9	73201947	73202674	E071	-21886
chr9	73202703	73203049	E071	-21511
chr9	73203406	73203649	E071	-20911
chr9	73203660	73204250	E071	-20310
chr9	73204299	73205655	E071	-18905
chr9	73215228	73217820	E071	-6740
chr9	73217851	73218009	E071	-6551
chr9	73224374	73225611	E071	0
chr9	73228291	73228650	E071	3731
chr9	73228796	73228840	E071	4236
chr9	73228868	73228945	E071	4308
chr9	73229053	73229107	E071	4493
chr9	73229153	73229207	E071	4593
chr9	73229535	73229692	E071	4975
chr9	73231068	73231118	E071	6508
chr9	73231185	73231444	E071	6625
chr9	73231480	73231791	E071	6920
chr9	73231892	73231942	E071	7332
chr9	73250033	73250173	E071	25473
chr9	73201378	73201899	E072	-22661
chr9	73201947	73202674	E072	-21886
chr9	73202703	73203049	E072	-21511
chr9	73214927	73215227	E072	-9333
chr9	73224374	73225611	E072	0
chr9	73229535	73229692	E072	4975
chr9	73231068	73231118	E072	6508
chr9	73231185	73231444	E072	6625
chr9	73231480	73231791	E072	6920
chr9	73231892	73231942	E072	7332
chr9	73232031	73232093	E072	7471
chr9	73232185	73232270	E072	7625
chr9	73201947	73202674	E073	-21886
chr9	73202703	73203049	E073	-21511
chr9	73203406	73203649	E073	-20911
chr9	73203660	73204250	E073	-20310
chr9	73214927	73215227	E073	-9333
chr9	73215228	73217820	E073	-6740
chr9	73217851	73218009	E073	-6551
chr9	73228291	73228650	E073	3731
chr9	73228796	73228840	E073	4236
chr9	73229702	73230880	E073	5142
chr9	73188044	73188338	E074	-36222
chr9	73188369	73188503	E074	-36057
chr9	73188728	73188815	E074	-35745
chr9	73188900	73189844	E074	-34716
chr9	73195455	73196298	E074	-28262
chr9	73196361	73196477	E074	-28083
chr9	73201220	73201270	E074	-23290
chr9	73201275	73201370	E074	-23190
chr9	73201378	73201899	E074	-22661
chr9	73201947	73202674	E074	-21886
chr9	73202703	73203049	E074	-21511
chr9	73203406	73203649	E074	-20911
chr9	73203660	73204250	E074	-20310
chr9	73215228	73217820	E074	-6740
chr9	73224374	73225611	E074	0
chr9	73228868	73228945	E074	4308
chr9	73229053	73229107	E074	4493
chr9	73229153	73229207	E074	4593
chr9	73229535	73229692	E074	4975
chr9	73229702	73230880	E074	5142
chr9	73231068	73231118	E074	6508
chr9	73231185	73231444	E074	6625
chr9	73231480	73231791	E074	6920
chr9	73231892	73231942	E074	7332
chr9	73232031	73232093	E074	7471
chr9	73232185	73232270	E074	7625
chr9	73232345	73232432	E074	7785
chr9	73201378	73201899	E081	-22661
chr9	73201947	73202674	E081	-21886
chr9	73202703	73203049	E081	-21511
chr9	73215228	73217820	E081	-6740
chr9	73217851	73218009	E081	-6551
chr9	73229702	73230880	E081	5142
chr9	73231068	73231118	E081	6508
chr9	73231185	73231444	E081	6625
chr9	73231480	73231791	E081	6920
chr9	73231892	73231942	E081	7332
chr9	73232031	73232093	E081	7471
chr9	73232185	73232270	E081	7625
chr9	73232345	73232432	E081	7785
chr9	73201378	73201899	E082	-22661
chr9	73201947	73202674	E082	-21886
chr9	73202703	73203049	E082	-21511
chr9	73215228	73217820	E082	-6740
chr9	73231480	73231791	E082	6920
chr9	73231892	73231942	E082	7332
chr9	73255029	73255119	E082	30469