rs360595

Homo sapiens
G>A
SYCP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0390 (11644/29824,GnomAD)
A=0358 (10428/29118,TOPMED)
A=0362 (1811/5008,1000G)
A=0463 (1785/3854,ALSPAC)
A=0470 (1743/3708,TWINSUK)
chr1:114930585 (GRCh38.p7) (1p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.114930585G>A
GRCh37.p13 chr 1NC_000001.10:g.115473206G>A

Gene: SYCP1, synaptonemal complex protein 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SYCP1 transcript variant 2NM_001282541.1:c.N/AIntron Variant
SYCP1 transcript variant 3NM_001282542.1:c.N/AIntron Variant
SYCP1 transcript variant 1NM_003176.3:c.N/AIntron Variant
SYCP1 transcript variant 4NR_104211.1:n.N/AIntron Variant
SYCP1 transcript variant X3XM_005271155.3:c.N/AIntron Variant
SYCP1 transcript variant X4XM_005271156.1:c.N/AIntron Variant
SYCP1 transcript variant X1XM_006710859.1:c.N/AIntron Variant
SYCP1 transcript variant X6XM_011542037.2:c.N/AIntron Variant
SYCP1 transcript variant X7XM_011542038.2:c.N/AIntron Variant
SYCP1 transcript variant X2XM_017002184.1:c.N/AIntron Variant
SYCP1 transcript variant X5XM_017002185.1:c.N/AIntron Variant
SYCP1 transcript variant X8XM_011542039.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.814A=0.186
1000GenomesAmericanSub694G=0.610A=0.390
1000GenomesEast AsianSub1008G=0.470A=0.530
1000GenomesEuropeSub1006G=0.552A=0.448
1000GenomesGlobalStudy-wide5008G=0.638A=0.362
1000GenomesSouth AsianSub978G=0.680A=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.537A=0.463
The Genome Aggregation DatabaseAfricanSub8702G=0.793A=0.207
The Genome Aggregation DatabaseAmericanSub836G=0.590A=0.410
The Genome Aggregation DatabaseEast AsianSub1608G=0.506A=0.494
The Genome Aggregation DatabaseEuropeSub18376G=0.534A=0.465
The Genome Aggregation DatabaseGlobalStudy-wide29824G=0.609A=0.390
The Genome Aggregation DatabaseOtherSub302G=0.480A=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.641A=0.358
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.530A=0.470
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
rs3605959.11E-05alcohol consumption23953852

eQTL of rs360595 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:115473206TSPAN2ENSG00000134198.5G>A5.2445e-13-158915Cerebellum

meQTL of rs360595 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)
chr1115444588115444648E068-28558
chr1115444653115444740E068-28466
chr1115444922115445006E068-28200
chr1115444588115444648E071-28558
chr1115444653115444740E071-28466
chr1115444922115445006E071-28200