rs798949

Homo sapiens
T>A / T>C
CPED1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0438 (13106/29920,GnomAD)
C=0416 (12139/29118,TOPMED)
T==0395 (5141/13006,GO-ESP)
T==0494 (2476/5008,1000G)
C=0449 (1731/3854,ALSPAC)
C=0448 (1662/3708,TWINSUK)
chr7:121125900 (GRCh38.p7) (7q31.31)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.121125900T>A
GRCh38.p7 chr 7NC_000007.14:g.121125900T>C
GRCh37.p13 chr 7NC_000007.13:g.120765954T>A
GRCh37.p13 chr 7NC_000007.13:g.120765954T>C

Gene: CPED1, cadherin like and PC-esterase domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CPED1 transcript variant 2NM_001105533.1:c.N/AIntron Variant
CPED1 transcript variant 1NM_024913.4:c.N/AIntron Variant
CPED1 transcript variant X1XM_017012649.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.753C=0.247
1000GenomesAmericanSub694T=0.380C=0.620
1000GenomesEast AsianSub1008T=0.145C=0.855
1000GenomesEuropeSub1006T=0.517C=0.483
1000GenomesGlobalStudy-wide5008T=0.494C=0.506
1000GenomesSouth AsianSub978T=0.570C=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.551C=0.449
The Genome Aggregation DatabaseAfricanSub8704T=0.704C=0.296
The Genome Aggregation DatabaseAmericanSub836T=0.380C=0.620
The Genome Aggregation DatabaseEast AsianSub1612T=0.159C=0.841
The Genome Aggregation DatabaseEuropeSub18466T=0.537C=0.462
The Genome Aggregation DatabaseGlobalStudy-wide29920T=0.562C=0.438
The Genome Aggregation DatabaseOtherSub302T=0.620C=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.583C=0.416
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.552C=0.448
PMID Title Author Journal
23300646Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.Zhu JPLoS One
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
rs7989490.000661alcohol dependence21314694

eQTL of rs798949 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 rs798949 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr75792771057927946E068-7473
chr75792827757928392E068-7027
chr75792873157928954E068-6465
chr75792771057927946E069-7473
chr75792814657928196E069-7223
chr75792827757928392E069-7027
chr75792852357928639E069-6780
chr75792771057927946E071-7473
chr75792814657928196E071-7223
chr75792827757928392E071-7027
chr75792852357928639E071-6780
chr75792873157928954E071-6465
chr75792771057927946E074-7473
chr75792814657928196E074-7223
chr75792827757928392E074-7027
chr75792852357928639E074-6780
chr75792873157928954E074-6465
chr75792899557929097E074-6322
chr75792913457929208E074-6211