rs2042984

Homo sapiens
C>T
SYK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0227 (6806/29904,GnomAD)
T=0251 (7325/29118,TOPMED)
T=0214 (1073/5008,1000G)
T=0254 (979/3854,ALSPAC)
T=0259 (961/3708,TWINSUK)
chr9:90810813 (GRCh38.p7) (9q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.90810813C>T
GRCh37.p13 chr 9NC_000009.11:g.93573095C>T
SYK RefSeqGeneNG_017046.1:g.14084C>T

Gene: SYK, spleen tyrosine kinase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SYK transcript variant 2NM_001135052.3:c.N/AIntron Variant
SYK transcript variant 4NM_001174168.2:c.N/AIntron Variant
SYK transcript variant 1NM_003177.6:c.N/AIntron Variant
SYK transcript variant 3NM_001174167.2:c.N/AGenic Upstream Transcript Variant
SYK transcript variant X1XM_005252147.3:c.N/AIntron Variant
SYK transcript variant X2XM_011518946.2:c.N/AIntron Variant
SYK transcript variant X3XR_001746370.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.758T=0.242
1000GenomesAmericanSub694C=0.800T=0.200
1000GenomesEast AsianSub1008C=0.821T=0.179
1000GenomesEuropeSub1006C=0.765T=0.235
1000GenomesGlobalStudy-wide5008C=0.786T=0.214
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.746T=0.254
The Genome Aggregation DatabaseAfricanSub8712C=0.774T=0.226
The Genome Aggregation DatabaseAmericanSub838C=0.810T=0.190
The Genome Aggregation DatabaseEast AsianSub1610C=0.821T=0.179
The Genome Aggregation DatabaseEuropeSub18442C=0.766T=0.233
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.772T=0.227
The Genome Aggregation DatabaseOtherSub302C=0.740T=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.748T=0.251
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.741T=0.259
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
rs20429848.93E-05alcohol consumption23953852

eQTL of rs2042984 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 rs2042984 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 )
chr99356729493567687E070-5408
chr99359753293598018E07024437
chr99361733593617497E08144240
chr99361757893617632E08144483
chr99361768893617772E08144593
chr99361791293618075E08144817
chr99361693293617277E08243837
chr99361733593617497E08244240
chr99361757893617632E08244483
chr99361768893617772E08244593



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr99356330793565107E069-7988
chr99356521593565333E069-7762
chr99356521593565333E071-7762