rs9424490

Homo sapiens
C>G
LOC101927711 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0152 (4531/29762,GnomAD)
G=0206 (6015/29116,TOPMED)
G=0181 (905/5008,1000G)
G=0044 (170/3854,ALSPAC)
G=0045 (168/3708,TWINSUK)
chr1:232886124 (GRCh38.p7) (1q42.2)
ND
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.232886124C>G
GRCh37.p13 chr 1NC_000001.10:g.233021870C>G

Gene: LOC101927711, uncharacterized LOC101927711(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101927711 transcript variant X1XR_247101.4:n.N/AIntron Variant
LOC101927711 transcript variant X2XR_949278.2:n.N/AIntron Variant
LOC101927711 transcript variant X3XR_949279.2:n.N/AIntron Variant
LOC101927711 transcript variant X4XR_949280.2:n.N/AIntron Variant
LOC101927711 transcript variant X5XR_949281.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.551G=0.449
1000GenomesAmericanSub694C=0.800G=0.200
1000GenomesEast AsianSub1008C=0.923G=0.077
1000GenomesEuropeSub1006C=0.956G=0.044
1000GenomesGlobalStudy-wide5008C=0.819G=0.181
1000GenomesSouth AsianSub978C=0.950G=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.956G=0.044
The Genome Aggregation DatabaseAfricanSub8650C=0.624G=0.376
The Genome Aggregation DatabaseAmericanSub838C=0.820G=0.180
The Genome Aggregation DatabaseEast AsianSub1620C=0.903G=0.097
The Genome Aggregation DatabaseEuropeSub18352C=0.947G=0.052
The Genome Aggregation DatabaseGlobalStudy-wide29762C=0.847G=0.152
The Genome Aggregation DatabaseOtherSub302C=0.980G=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.793G=0.206
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.955G=0.045
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
rs94244903.62E-05nicotine smoking19268276

eQTL of rs9424490 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 rs9424490 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 )
chr1233016207233016455E071-5415