rs7830364

Homo sapiens
A>G / A>T
CSMD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0028 (856/29974,GnomAD)
G=0025 (755/29118,TOPMED)
G=0020 (99/5008,1000G)
G=0012 (47/3854,ALSPAC)
G=0016 (59/3708,TWINSUK)
chr8:3824501 (GRCh38.p7) (8p23.2)
AD
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.3824501A>G
GRCh38.p7 chr 8NC_000008.11:g.3824501A>T
GRCh37.p13 chr 8NC_000008.10:g.3682023A>G
GRCh37.p13 chr 8NC_000008.10:g.3682023A>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
1000GenomesAfricanSub1322A=0.952G=0.048
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=0.982G=0.018
1000GenomesEuropeSub1006A=0.990G=0.010
1000GenomesGlobalStudy-wide5008A=0.980G=0.020
1000GenomesSouth AsianSub978A=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.988G=0.012
The Genome Aggregation DatabaseAfricanSub8720A=0.957T=0.000
The Genome Aggregation DatabaseAmericanSub838A=0.990T=0.00,
The Genome Aggregation DatabaseEast AsianSub1622A=0.979T=0.000
The Genome Aggregation DatabaseEuropeSub18492A=0.976T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29974A=0.971T=0.000
The Genome Aggregation DatabaseOtherSub302A=1.000T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.974G=0.025
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.984G=0.016
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs78303640.00011alcohol dependence21314694

eQTL of rs7830364 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 rs7830364 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.