rs62313897

Homo sapiens
G>A
CCSER1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0042 (1284/29954,GnomAD)
A=0039 (1155/29118,TOPMED)
A=0017 (86/5008,1000G)
A=0053 (205/3854,ALSPAC)
A=0059 (219/3708,TWINSUK)
chr4:90215590 (GRCh38.p7) (4q22.1)
AD
GWASCatalog
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.90215590G>A
GRCh37.p13 chr 4NC_000004.11:g.91136741G>A

Gene: CCSER1, coiled-coil serine rich protein 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CCSER1 transcript variant 1NM_001145065.1:c.N/AIntron Variant
CCSER1 transcript variant 2NM_207491.2:c.N/AGenic Upstream Transcript Variant
CCSER1 transcript variant X1XM_011531936.1:c.N/AIntron Variant
CCSER1 transcript variant X2XM_011531938.2:c.N/AIntron Variant
CCSER1 transcript variant X6XM_011531941.2:c.N/AIntron Variant
CCSER1 transcript variant X7XM_011531942.2:c.N/AIntron Variant
CCSER1 transcript variant X8XM_011531943.2:c.N/AIntron Variant
CCSER1 transcript variant X10XM_011531945.1:c.N/AIntron Variant
CCSER1 transcript variant X11XM_011531946.2:c.N/AIntron Variant
CCSER1 transcript variant X12XM_011531947.2:c.N/AIntron Variant
CCSER1 transcript variant X14XM_011531948.1:c.N/AIntron Variant
CCSER1 transcript variant X17XM_011531949.2:c.N/AIntron Variant
CCSER1 transcript variant X19XM_011531950.2:c.N/AIntron Variant
CCSER1 transcript variant X18XM_011531951.2:c.N/AIntron Variant
CCSER1 transcript variant X24XM_011531955.2:c.N/AIntron Variant
CCSER1 transcript variant X25XM_011531956.2:c.N/AIntron Variant
CCSER1 transcript variant X27XM_011531957.2:c.N/AIntron Variant
CCSER1 transcript variant X28XM_011531958.2:c.N/AIntron Variant
CCSER1 transcript variant X5XM_017008194.1:c.N/AIntron Variant
CCSER1 transcript variant X9XM_017008195.1:c.N/AIntron Variant
CCSER1 transcript variant X20XM_017008196.1:c.N/AIntron Variant
CCSER1 transcript variant X21XM_017008197.1:c.N/AIntron Variant
CCSER1 transcript variant X22XM_017008198.1:c.N/AIntron Variant
CCSER1 transcript variant X26XM_017008199.1:c.N/AIntron Variant
CCSER1 transcript variant X29XM_017008200.1:c.N/AIntron Variant
CCSER1 transcript variant X30XM_017008201.1:c.N/AIntron Variant
CCSER1 transcript variant X31XM_017008202.1:c.N/AIntron Variant
CCSER1 transcript variant X3XM_011531937.2:c.N/AGenic Upstream Transcript Variant
CCSER1 transcript variant X4XM_011531939.2:c.N/AGenic Upstream Transcript Variant
CCSER1 transcript variant X13XR_001741218.1:n.N/AIntron Variant
CCSER1 transcript variant X15XR_938733.2:n.N/AIntron Variant
CCSER1 transcript variant X16XR_938734.2:n.N/AIntron Variant
CCSER1 transcript variant X23XR_938735.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.997A=0.003
1000GenomesAmericanSub694G=0.960A=0.040
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.948A=0.052
1000GenomesGlobalStudy-wide5008G=0.983A=0.017
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.947A=0.053
The Genome Aggregation DatabaseAfricanSub8720G=0.988A=0.012
The Genome Aggregation DatabaseAmericanSub836G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1618G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18478G=0.938A=0.061
The Genome Aggregation DatabaseGlobalStudy-wide29954G=0.957A=0.042
The Genome Aggregation DatabaseOtherSub302G=0.940A=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.960A=0.039
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.941A=0.059
PMID Title Author Journal
28990359Ancestry-specific and sex-specific risk alleles identified in a genome-wide gene-by-alcohol dependence interaction study of risky sexual behaviors.Polimanti RAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs623138978E-10alcohol dependence28990359

eQTL of rs62313897 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 rs62313897 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 )
chr49110291991103059E070-33682
chr49110556591105634E070-31107
chr49110582591106037E070-30704
chr49110612891106275E070-30466
chr49110655791106824E070-29917
chr49110745391107762E070-28979
chr49110839391108443E070-28298
chr49110849191109186E070-27555
chr49115721891157324E07120477
chr49110839391108443E081-28298
chr49110849191109186E081-27555
chr49111115891111360E081-25381
chr49110839391108443E082-28298
chr49110849191109186E082-27555
chr49111051991110656E082-26085
chr49111115891111360E082-25381




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr49115608791156408E06719346
chr49115608791156408E06819346
chr49115644191156568E06819700
chr49115608791156408E06919346
chr49115644191156568E06919700
chr49115608791156408E07019346
chr49115644191156568E07019700
chr49115608791156408E07119346
chr49115608791156408E07219346
chr49115644191156568E07219700
chr49115608791156408E07319346
chr49115608791156408E08219346
chr49115644191156568E08219700