rs10235080

Homo sapiens
A>G
SDK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0207 (6205/29914,GnomAD)
G=0190 (5531/29118,TOPMED)
G=0197 (988/5008,1000G)
G=0319 (1231/3854,ALSPAC)
G=0320 (1186/3708,TWINSUK)
chr7:3379870 (GRCh38.p7) (7p22.2)
ND
GWASdb2
1   publication(s)
See rs on genome
44 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.3379870A>G
GRCh37.p13 chr 7NC_000007.13:g.3419502A>G

Gene: SDK1, sidekick cell adhesion molecule 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SDK1 transcript variant 1NM_152744.3:c.N/AIntron Variant
SDK1 transcript variant 2NM_001079653.1:c.N/AGenic Upstream Transcript Variant
SDK1 transcript variant X4XM_011515188.1:c.N/AGenic Upstream Transcript Variant
SDK1 transcript variant X5XM_011515189.1:c.N/AGenic Upstream Transcript Variant
SDK1 transcript variant X6XM_011515190.1:c.N/AGenic Upstream Transcript Variant
SDK1 transcript variant X1XM_017011837.1:c.N/AGenic Upstream Transcript Variant
SDK1 transcript variant X7XM_017011838.1:c.N/AGenic Upstream Transcript Variant
SDK1 transcript variant X8XM_017011839.1:c.N/AGenic Upstream Transcript Variant
SDK1 transcript variant X9XM_017011840.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.967G=0.033
1000GenomesAmericanSub694A=0.780G=0.220
1000GenomesEast AsianSub1008A=0.939G=0.061
1000GenomesEuropeSub1006A=0.666G=0.334
1000GenomesGlobalStudy-wide5008A=0.803G=0.197
1000GenomesSouth AsianSub978A=0.600G=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.681G=0.319
The Genome Aggregation DatabaseAfricanSub8718A=0.929G=0.071
The Genome Aggregation DatabaseAmericanSub838A=0.770G=0.230
The Genome Aggregation DatabaseEast AsianSub1616A=0.947G=0.053
The Genome Aggregation DatabaseEuropeSub18444A=0.717G=0.282
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.792G=0.207
The Genome Aggregation DatabaseOtherSub298A=0.670G=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.810G=0.190
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.680G=0.320
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
rs102350800.00049nicotine smoking19268276

eQTL of rs10235080 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 rs10235080 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 )
chr733857743385824E068-33678
chr734208863421248E0701384
chr734484973448557E07028995
chr734485853448750E07029083
chr734488223448927E07029320
chr734489973449111E07029495
chr734033223403487E081-16015
chr734069873407392E081-12110
chr734075813407631E081-11871
chr734082163408418E081-11084
chr734084233408483E081-11019
chr734085423408614E081-10888
chr734090003409118E081-10384
chr734091723409294E081-10208
chr734101823410960E081-8542
chr734111883411238E081-8264
chr734113543411836E081-7666
chr734208863421248E0811384
chr734245543424604E0815052
chr734260113426165E0816509
chr734261763426429E0816674
chr734266423426793E0817140
chr734268293426879E0817327
chr734269863427060E0817484
chr734271143427219E0817612
chr734447153445086E08125213
chr734484973448557E08128995
chr734485853448750E08129083
chr734488223448927E08129320
chr734489973449111E08129495
chr734491423449209E08129640
chr734504473450628E08130945
chr734508533450908E08131351
chr734510153451055E08131513
chr734511363451267E08131634
chr734082163408418E082-11084
chr734101823410960E082-8542
chr734438293443918E08224327
chr734439553444017E08224453
chr734441303444678E08224628
chr734519653452213E08232463
chr734522883452345E08232786
chr734523833452425E08232881
chr734525063452546E08233004




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr734674433467493E06847941
chr734677123467880E06848210
chr734674433467493E07247941