rs17021323

Homo sapiens
A>G
SOCS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0025 (770/29968,GnomAD)
G=0024 (703/29118,TOPMED)
G=0019 (93/5008,1000G)
G=0025 (96/3854,ALSPAC)
G=0022 (80/3708,TWINSUK)
chr12:93579094 (GRCh38.p7) (12q22)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.93579094A>G
GRCh37.p13 chr 12NC_000012.11:g.93972870A>G

Gene: SOCS2, suppressor of cytokine signaling 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SOCS2 transcript variant 2NM_001270467.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant 3NM_001270468.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant 4NM_001270469.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant 5NM_001270470.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant 6NM_001270471.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant 1NM_003877.4:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X7XM_011538929.1:c.N/AIntron Variant
SOCS2 transcript variant X8XM_011538935.1:c.N/AIntron Variant
SOCS2 transcript variant X9XM_011538936.1:c.N/AIntron Variant
SOCS2 transcript variant X9XM_017020155.1:c.N/AIntron Variant
SOCS2 transcript variant X1XM_017020147.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X2XM_017020148.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X3XM_017020149.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X4XM_017020150.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X4XM_017020151.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X5XM_017020152.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X7XM_017020153.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X8XM_017020154.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X14XM_017020156.1:c.N/AGenic Downstream Transcript Variant
SOCS2 transcript variant X10XR_944810.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.972G=0.028
1000GenomesAmericanSub694A=0.980G=0.020
1000GenomesEast AsianSub1008A=0.998G=0.002
1000GenomesEuropeSub1006A=0.972G=0.028
1000GenomesGlobalStudy-wide5008A=0.981G=0.019
1000GenomesSouth AsianSub978A=0.990G=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.975G=0.025
The Genome Aggregation DatabaseAfricanSub8720A=0.974G=0.026
The Genome Aggregation DatabaseAmericanSub838A=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1622A=0.994G=0.006
The Genome Aggregation DatabaseEuropeSub18486A=0.971G=0.028
The Genome Aggregation DatabaseGlobalStudy-wide29968A=0.974G=0.025
The Genome Aggregation DatabaseOtherSub302A=0.980G=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.975G=0.024
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.978G=0.022
PMID Title Author Journal
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
rs170213230.000854alcohol dependence21314694

eQTL of rs17021323 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 rs17021323 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 )
chr129393029493930551E071-42319
chr129393057393930832E071-42038
chr129398679093986854E07113920
chr129393057393930832E081-42038
chr129393085293931025E081-41845
chr129393057393930832E082-42038
chr129393085293931025E082-41845



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr129396301693968038E067-4832
chr129398460493985993E06711734
chr129396301693968038E068-4832
chr129398460493985993E06811734
chr129398860593988645E06815735
chr129396301693968038E069-4832
chr129398460493985993E06911734
chr129396301693968038E070-4832
chr129398460493985993E07011734
chr129396301693968038E071-4832
chr129398460493985993E07111734
chr129396301693968038E072-4832
chr129398460493985993E07211734
chr129396301693968038E073-4832
chr129398460493985993E07311734
chr129396301693968038E074-4832
chr129398460493985993E07411734
chr129396301693968038E081-4832
chr129398460493985993E08111734
chr129396301693968038E082-4832
chr129398460493985993E08211734