rs8038607

Homo sapiens
T>C
LRRK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0325 (9623/29572,GnomAD)
C=0348 (10155/29118,TOPMED)
C=0374 (1874/5008,1000G)
C=0254 (979/3854,ALSPAC)
C=0261 (967/3708,TWINSUK)
chr15:100974424 (GRCh38.p7) (15q26.3)
ND
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.100974424T>C
GRCh37.p13 chr 15NC_000015.9:g.101514629T>C

Gene: LRRK1, leucine-rich repeat kinase 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LRRK1 transcriptNM_024652.4:c.N/AIntron Variant
LRRK1 transcript variant X1XM_011522012.2:c.N/AIntron Variant
LRRK1 transcript variant X2XM_011522013.2:c.N/AIntron Variant
LRRK1 transcript variant X3XM_011522014.2:c.N/AIntron Variant
LRRK1 transcript variant X5XM_011522016.2:c.N/AIntron Variant
LRRK1 transcript variant X11XM_011522019.2:c.N/AIntron Variant
LRRK1 transcript variant X9XM_005254979.3:c.N/AGenic Upstream Transcript Variant
LRRK1 transcript variant X4XM_011522015.2:c.N/AGenic Upstream Transcript Variant
LRRK1 transcript variant X8XM_011522017.2:c.N/AGenic Upstream Transcript Variant
LRRK1 transcript variant X10XM_011522018.2:c.N/AGenic Upstream Transcript Variant
LRRK1 transcript variant X6XM_017022570.1:c.N/AGenic Upstream Transcript Variant
LRRK1 transcript variant X7XR_931905.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.533C=0.467
1000GenomesAmericanSub694T=0.590C=0.410
1000GenomesEast AsianSub1008T=0.487C=0.513
1000GenomesEuropeSub1006T=0.771C=0.229
1000GenomesGlobalStudy-wide5008T=0.626C=0.374
1000GenomesSouth AsianSub978T=0.770C=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.746C=0.254
The Genome Aggregation DatabaseAfricanSub8560T=0.557C=0.443
The Genome Aggregation DatabaseAmericanSub830T=0.620C=0.380
The Genome Aggregation DatabaseEast AsianSub1604T=0.503C=0.497
The Genome Aggregation DatabaseEuropeSub18278T=0.747C=0.252
The Genome Aggregation DatabaseGlobalStudy-wide29572T=0.674C=0.325
The Genome Aggregation DatabaseOtherSub300T=0.680C=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.651C=0.348
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.739C=0.261
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs80386070.000142nicotine smoking19268276

eQTL of rs8038607 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 rs8038607 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 )
chr15101469639101470310E067-44319
chr15101470344101470440E067-44189
chr15101547090101548240E06732461
chr15101555430101555954E06840801
chr15101555976101556180E06841347
chr15101468967101469017E070-45612
chr15101469108101469531E070-45098
chr15101555430101555954E07040801
chr15101555976101556180E07041347
chr15101547090101548240E07132461
chr15101555163101555330E07140534
chr15101555430101555954E07140801
chr15101563265101563340E07148636
chr15101555430101555954E07240801
chr15101555976101556180E07241347
chr15101555163101555330E07340534
chr15101555430101555954E07340801
chr15101555976101556180E07341347
chr15101561022101561376E07346393
chr15101561509101561604E07346880
chr15101547090101548240E07432461
chr15101468543101468593E081-46036
chr15101555430101555954E08140801
chr15101553949101554038E08239320
chr15101554162101554493E08239533









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr15101513539101513651E067-978
chr15101513653101513845E067-784
chr15101513867101513982E067-647
chr15101514052101514409E067-220
chr15101548384101549338E06733755
chr15101513279101513522E068-1107
chr15101513539101513651E068-978
chr15101513653101513845E068-784
chr15101513867101513982E068-647
chr15101548384101549338E06833755
chr15101513539101513651E069-978
chr15101513653101513845E069-784
chr15101513867101513982E069-647
chr15101548384101549338E06933755
chr15101548384101549338E07033755
chr15101513279101513522E071-1107
chr15101513539101513651E071-978
chr15101513653101513845E071-784
chr15101548384101549338E07133755
chr15101513279101513522E072-1107
chr15101513539101513651E072-978
chr15101513653101513845E072-784
chr15101514052101514409E072-220
chr15101548384101549338E07233755
chr15101513279101513522E073-1107
chr15101513539101513651E073-978
chr15101513653101513845E073-784
chr15101513867101513982E073-647
chr15101514052101514409E073-220
chr15101548384101549338E07333755
chr15101513867101513982E074-647
chr15101548384101549338E08233755