rs1004018

Homo sapiens
G>A
ADGRF5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0163 (4887/29942,GnomAD)
A=0164 (4789/29118,TOPMED)
A=0152 (761/5008,1000G)
A=0185 (713/3854,ALSPAC)
A=0174 (647/3708,TWINSUK)
chr6:46886666 (GRCh38.p7) (6p12.3)
ND
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.46886666G>A
GRCh37.p13 chr 6NC_000006.11:g.46854403G>A

Gene: ADGRF5, adhesion G protein-coupled receptor F5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADGRF5 transcript variant 2NM_001098518.1:c.N/AIntron Variant
ADGRF5 transcript variant 1NM_015234.4:c.N/AIntron Variant
ADGRF5 transcript variant X1XM_005248892.2:c.N/AIntron Variant
ADGRF5 transcript variant X2XM_005248893.3:c.N/AIntron Variant
ADGRF5 transcript variant X3XM_005248894.3:c.N/AIntron Variant
ADGRF5 transcript variant X4XM_005248895.3:c.N/AIntron Variant
ADGRF5 transcript variant X6XM_011514353.2:c.N/AIntron Variant
ADGRF5 transcript variant X11XM_011514354.2:c.N/AIntron Variant
ADGRF5 transcript variant X5XM_017010418.1:c.N/AIntron Variant
ADGRF5 transcript variant X7XM_017010419.1:c.N/AIntron Variant
ADGRF5 transcript variant X8XM_017010420.1:c.N/AIntron Variant
ADGRF5 transcript variant X9XM_017010421.1:c.N/AIntron Variant
ADGRF5 transcript variant X10XM_017010422.1:c.N/AIntron Variant
ADGRF5 transcript variant X12XM_017010423.1:c.N/AIntron Variant
ADGRF5 transcript variant X13XM_017010424.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.908A=0.092
1000GenomesAmericanSub694G=0.810A=0.190
1000GenomesEast AsianSub1008G=0.831A=0.169
1000GenomesEuropeSub1006G=0.855A=0.145
1000GenomesGlobalStudy-wide5008G=0.848A=0.152
1000GenomesSouth AsianSub978G=0.800A=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.815A=0.185
The Genome Aggregation DatabaseAfricanSub8720G=0.859A=0.141
The Genome Aggregation DatabaseAmericanSub838G=0.770A=0.230
The Genome Aggregation DatabaseEast AsianSub1610G=0.825A=0.175
The Genome Aggregation DatabaseEuropeSub18472G=0.830A=0.169
The Genome Aggregation DatabaseGlobalStudy-wide29942G=0.836A=0.163
The Genome Aggregation DatabaseOtherSub302G=0.830A=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.835A=0.164
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.826A=0.174
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
rs10040180.000523nicotine smoking19268276

eQTL of rs1004018 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 rs1004018 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 )
chr64681637646817408E068-36995
chr64681789546817945E068-36458

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr64688877846888855E06734375
chr64688896946889102E06734566
chr64688926446889369E06734861
chr64688961946889882E06735216
chr64688877846888855E06834375
chr64688896946889102E06834566
chr64688926446889369E06834861
chr64688877846888855E06934375
chr64688896946889102E06934566
chr64688926446889369E06934861
chr64688877846888855E07134375
chr64688896946889102E07134566
chr64688926446889369E07134861
chr64688877846888855E07234375
chr64688896946889102E07234566
chr64688926446889369E07234861
chr64688961946889882E07235216
chr64688877846888855E07334375
chr64688896946889102E07334566
chr64688926446889369E07334861