rs2930357

Homo sapiens
T>C / T>G
CSMD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0358 (10715/29882,GnomAD)
C=0380 (11084/29118,TOPMED)
C=0447 (2241/5008,1000G)
chr8:3852138 (GRCh38.p7) (8p23.2)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.3852138T>C
GRCh38.p7 chr 8NC_000008.11:g.3852138T>G
GRCh37.p13 chr 8NC_000008.10:g.3709660T>C
GRCh37.p13 chr 8NC_000008.10:g.3709660T>G

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
1000GenomesAfricanSub1322T=0.436C=0.564
1000GenomesAmericanSub694T=0.650C=0.350
1000GenomesEast AsianSub1008T=0.480C=0.520
1000GenomesEuropeSub1006T=0.728C=0.272
1000GenomesGlobalStudy-wide5008T=0.553C=0.447
1000GenomesSouth AsianSub978T=0.530C=0.470
The Genome Aggregation DatabaseAfricanSub8684T=0.464G=0.001
The Genome Aggregation DatabaseAmericanSub836T=0.630G=0.00,
The Genome Aggregation DatabaseEast AsianSub1608T=0.479G=0.000
The Genome Aggregation DatabaseEuropeSub18452T=0.737G=0.001
The Genome Aggregation DatabaseGlobalStudy-wide29882T=0.639G=0.001
The Genome Aggregation DatabaseOtherSub302T=0.620G=0.04,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.619C=0.380
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
rs29303572.08E-05nicotine smoking19268276

eQTL of rs2930357 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 rs2930357 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.