rs12678875

Homo sapiens
C>T
CSMD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0158 (4731/29892,GnomAD)
T=0160 (4673/29118,TOPMED)
T=0153 (768/5008,1000G)
T=0159 (612/3854,ALSPAC)
T=0151 (560/3708,TWINSUK)
chr8:3766524 (GRCh38.p7) (8p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.3766524C>T
GRCh37.p13 chr 8NC_000008.10:g.3624046C>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=0.849T=0.151
1000GenomesAmericanSub694C=0.760T=0.240
1000GenomesEast AsianSub1008C=0.861T=0.139
1000GenomesEuropeSub1006C=0.836T=0.164
1000GenomesGlobalStudy-wide5008C=0.847T=0.153
1000GenomesSouth AsianSub978C=0.900T=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.841T=0.159
The Genome Aggregation DatabaseAfricanSub8692C=0.844T=0.156
The Genome Aggregation DatabaseAmericanSub834C=0.770T=0.230
The Genome Aggregation DatabaseEast AsianSub1620C=0.815T=0.185
The Genome Aggregation DatabaseEuropeSub18444C=0.846T=0.153
The Genome Aggregation DatabaseGlobalStudy-wide29892C=0.841T=0.158
The Genome Aggregation DatabaseOtherSub302C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.839T=0.160
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.849T=0.151
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs126788755.16E-05alcohol consumption23953852

eQTL of rs12678875 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 rs12678875 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 )
chr836358133635929E06811767
chr836374943637570E07013448
chr836376603637997E07013614
chr836358133635929E07111767
chr836176323617782E072-6264
chr836177973617891E072-6155
chr836179323618716E072-5330
chr836243963625011E072350
chr836355143635739E07311468
chr836358133635929E07311767
chr836364033636453E07312357
chr836243963625011E081350
chr836364033636453E08112357
chr836376603637997E08113614
chr836649163665071E08140870
chr836652763665396E08141230
chr836654723665550E08141426
chr836374943637570E08213448
chr836376603637997E08213614
chr836381163638258E08214070
chr836382823638342E08214236







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr836360863636191E06812040
chr836360863636191E06912040
chr836360863636191E07112040