rs17292523

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

DNAH5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0347 (10368/29868,GnomAD)
G=0330 (9626/29118,TOPMED)
G=0381 (1908/5008,1000G)
G=0336 (1294/3854,ALSPAC)
G=0331 (1226/3708,TWINSUK)

Position: chr5:13985770 (GRCh38.p7) (5p15.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 39 Enhancers around

Promoter: 20 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.13985770A>G
GRCh37.p13 chr 5	NC_000005.9:g.13985879A>G

Molecule type	Change	Amino acid[Codon]	SO Term
DNAH5 transcript	NM_001369.2:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X1	XM_005248262.3:c.	N/A	Intron Variant
DNAH5 transcript variant X2	XM_017009177.1:c.	N/A	Intron Variant
DNAH5 transcript variant X6	XM_017009180.1:c.	N/A	Intron Variant
DNAH5 transcript variant X8	XM_017009181.1:c.	N/A	Intron Variant
DNAH5 transcript variant X9	XM_017009182.1:c.	N/A	Intron Variant
DNAH5 transcript variant X10	XM_017009183.1:c.	N/A	Intron Variant
DNAH5 transcript variant X11	XM_017009184.1:c.	N/A	Intron Variant
DNAH5 transcript variant X16	XM_017009187.1:c.	N/A	Intron Variant
DNAH5 transcript variant X4	XM_017009178.1:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X4	XM_017009179.1:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X12	XM_017009185.1:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X15	XM_017009186.1:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X17	XM_017009188.1:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X13	XR_001742034.1:n.	N/A	Intron Variant
DNAH5 transcript variant X14	XR_001742035.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.729	G=0.271
1000Genomes	American	Sub	694	A=0.590	G=0.410
1000Genomes	East Asian	Sub	1008	A=0.391	G=0.609
1000Genomes	Europe	Sub	1006	A=0.651	G=0.349
1000Genomes	Global	Study-wide	5008	A=0.619	G=0.381
1000Genomes	South Asian	Sub	978	A=0.690	G=0.310
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.664	G=0.336
The Genome Aggregation Database	African	Sub	8686	A=0.695	G=0.305
The Genome Aggregation Database	American	Sub	832	A=0.630	G=0.370
The Genome Aggregation Database	East Asian	Sub	1608	A=0.414	G=0.586
The Genome Aggregation Database	Europe	Sub	18440	A=0.654	G=0.345
The Genome Aggregation Database	Global	Study-wide	29868	A=0.652	G=0.347
The Genome Aggregation Database	Other	Sub	302	A=0.710	G=0.290
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.669	G=0.330
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.669	G=0.331

PMID	Title	Author	Journal
17158188	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Bierut LJ	Hum Mol Genet

SNP ID	p-value	Traits	Study
rs17292523	0.000323	nicotine dependence	17158188

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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 )
chr5	14012495	14012545	E067	26616
chr5	13943414	13943633	E068	-42246
chr5	13944991	13945199	E068	-40680
chr5	13945220	13945375	E068	-40504
chr5	13945869	13946057	E068	-39822
chr5	13946303	13946575	E068	-39304
chr5	13977577	13977985	E068	-7894
chr5	14035518	14035631	E068	49639
chr5	13944991	13945199	E069	-40680
chr5	13945220	13945375	E069	-40504
chr5	13945869	13946057	E069	-39822
chr5	13946303	13946575	E069	-39304
chr5	13946584	13946778	E069	-39101
chr5	13943414	13943633	E070	-42246
chr5	13943899	13944049	E070	-41830
chr5	13944991	13945199	E070	-40680
chr5	13945220	13945375	E070	-40504
chr5	13945869	13946057	E070	-39822
chr5	13946303	13946575	E070	-39304
chr5	13946584	13946778	E070	-39101
chr5	13943414	13943633	E081	-42246
chr5	13943899	13944049	E081	-41830
chr5	13944991	13945199	E081	-40680
chr5	13945220	13945375	E081	-40504
chr5	13945869	13946057	E081	-39822
chr5	13946303	13946575	E081	-39304
chr5	13946584	13946778	E081	-39101
chr5	13957078	13957128	E081	-28751
chr5	13957200	13957502	E081	-28377
chr5	14019956	14020362	E081	34077
chr5	14020484	14020565	E081	34605
chr5	14035518	14035631	E081	49639
chr5	13944991	13945199	E082	-40680
chr5	13945220	13945375	E082	-40504
chr5	13945869	13946057	E082	-39822
chr5	13946303	13946575	E082	-39304
chr5	13946584	13946778	E082	-39101
chr5	14016924	14017005	E082	31045
chr5	14017350	14017413	E082	31471

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr5	14011038	14011116	E067	25159
chr5	14011157	14012305	E067	25278
chr5	14011038	14011116	E068	25159
chr5	14011157	14012305	E068	25278
chr5	14011038	14011116	E069	25159
chr5	14011157	14012305	E069	25278
chr5	14011038	14011116	E070	25159
chr5	14011157	14012305	E070	25278
chr5	14011038	14011116	E071	25159
chr5	14011157	14012305	E071	25278
chr5	14011038	14011116	E072	25159
chr5	14011157	14012305	E072	25278
chr5	14011038	14011116	E073	25159
chr5	14011157	14012305	E073	25278
chr5	14011038	14011116	E074	25159
chr5	14011157	14012305	E074	25278
chr5	14011038	14011116	E081	25159
chr5	14011157	14012305	E081	25278
chr5	14011038	14011116	E082	25159
chr5	14011157	14012305	E082	25278