rs11774223

Homo sapiens
C>T
CSMD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0208 (6223/29918,GnomAD)
T=0166 (4839/29118,TOPMED)
T=0175 (875/5008,1000G)
T=0282 (1087/3854,ALSPAC)
T=0275 (1020/3708,TWINSUK)
chr8:3809060 (GRCh38.p7) (8p23.2)
ND
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.3809060C>T
GRCh37.p13 chr 8NC_000008.10:g.3666582C>T

Gene: CSMD1, CUB and Sushi multiple domains 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CSMD1 transcriptNM_033225.5:c.N/AIntron Variant
CSMD1 transcript variant X1XM_011534752.2:c.N/AIntron Variant
CSMD1 transcript variant X2XM_017013731.1:c.N/AIntron Variant
CSMD1 transcript variant X3XM_011534753.2:c.N/AGenic Upstream Transcript Variant
CSMD1 transcript variant X4XM_011534754.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.982T=0.018
1000GenomesAmericanSub694C=0.730T=0.270
1000GenomesEast AsianSub1008C=0.748T=0.252
1000GenomesEuropeSub1006C=0.731T=0.269
1000GenomesGlobalStudy-wide5008C=0.825T=0.175
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.718T=0.282
The Genome Aggregation DatabaseAfricanSub8722C=0.943T=0.057
The Genome Aggregation DatabaseAmericanSub838C=0.720T=0.280
The Genome Aggregation DatabaseEast AsianSub1602C=0.718T=0.282
The Genome Aggregation DatabaseEuropeSub18454C=0.731T=0.268
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.792T=0.208
The Genome Aggregation DatabaseOtherSub302C=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.833T=0.166
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.725T=0.275
PMID Title Author Journal
17407593Molecular genetics of nicotine dependence and abstinence: whole genome association using 520,000 SNPs.Uhl GRBMC Genet

P-Value

SNP ID p-value Traits Study
rs117742230.00095nicotine dependence17407593

eQTL of rs11774223 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 rs11774223 in Fetal Brain

Probe ID Position Gene beta p-value
cg08144586chr3:172241384TNFSF100.02630682250246485.7741e-10

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 )
chr836358133635929E068-30653
chr836374943637570E070-29012
chr836376603637997E070-28585
chr836358133635929E071-30653
chr836176323617782E072-48800
chr836177973617891E072-48691
chr836179323618716E072-47866
chr836243963625011E072-41571
chr836355143635739E073-30843
chr836358133635929E073-30653
chr836364033636453E073-30129
chr836243963625011E081-41571
chr836364033636453E081-30129
chr836376603637997E081-28585
chr836649163665071E081-1511
chr836652763665396E081-1186
chr836654723665550E081-1032
chr836759483676048E0819366
chr836762533676330E0819671
chr836374943637570E082-29012
chr836376603637997E082-28585
chr836381163638258E082-28324
chr836382823638342E082-28240







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr836360863636191E068-30391
chr836360863636191E069-30391
chr836360863636191E071-30391