rs2275019

Homo sapiens
G>C
SYNE2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0477 (14289/29920,GnomAD)
C=0405 (11810/29118,TOPMED)
C=0440 (2202/5008,1000G)
G==0436 (1682/3854,ALSPAC)
G==0424 (1573/3708,TWINSUK)
chr14:63941390 (GRCh38.p7) (14q23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
63 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.63941390G>C
GRCh37.p13 chr 14NC_000014.8:g.64408108G>C
SYNE2 RefSeqGeneNG_011756.1:g.93426G>C

Gene: SYNE2, spectrin repeat containing nuclear envelope protein 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SYNE2 transcript variant 1NM_015180.4:c.N/AIntron Variant
SYNE2 transcript variant 5NM_182914.2:c.N/AIntron Variant
SYNE2 transcript variant 2NM_182910.2:c.N/AGenic Upstream Transcript Variant
SYNE2 transcript variant 4NM_182913.2:c.N/AGenic Upstream Transcript Variant
SYNE2 transcript variant X7XM_005267454.1:c.N/AIntron Variant
SYNE2 transcript variant X9XM_005267456.1:c.N/AIntron Variant
SYNE2 transcript variant X13XM_005267457.1:c.N/AIntron Variant
SYNE2 transcript variant X14XM_005267458.1:c.N/AIntron Variant
SYNE2 transcript variant X16XM_005267459.1:c.N/AIntron Variant
SYNE2 transcript variant X1XM_011536574.1:c.N/AIntron Variant
SYNE2 transcript variant X2XM_011536575.2:c.N/AIntron Variant
SYNE2 transcript variant X4XM_011536576.2:c.N/AIntron Variant
SYNE2 transcript variant X3XM_011536577.2:c.N/AIntron Variant
SYNE2 transcript variant X6XM_011536578.1:c.N/AIntron Variant
SYNE2 transcript variant X8XM_011536579.1:c.N/AIntron Variant
SYNE2 transcript variant X10XM_011536580.1:c.N/AIntron Variant
SYNE2 transcript variant X12XM_011536581.1:c.N/AIntron Variant
SYNE2 transcript variant X15XM_011536582.1:c.N/AIntron Variant
SYNE2 transcript variant X18XM_011536584.2:c.N/AIntron Variant
SYNE2 transcript variant X5XM_017021101.1:c.N/AIntron Variant
SYNE2 transcript variant X11XM_017021102.1:c.N/AIntron Variant
SYNE2 transcript variant X19XM_017021103.1:c.N/AGenic Upstream Transcript Variant
SYNE2 transcript variant X20XM_017021104.1:c.N/AGenic Upstream Transcript Variant
SYNE2 transcript variant X17XR_001750198.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.788C=0.212
1000GenomesAmericanSub694G=0.480C=0.520
1000GenomesEast AsianSub1008G=0.541C=0.459
1000GenomesEuropeSub1006G=0.444C=0.556
1000GenomesGlobalStudy-wide5008G=0.560C=0.440
1000GenomesSouth AsianSub978G=0.450C=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.436C=0.564
The Genome Aggregation DatabaseAfricanSub8714G=0.749C=0.251
The Genome Aggregation DatabaseAmericanSub838G=0.480C=0.520
The Genome Aggregation DatabaseEast AsianSub1608G=0.513C=0.487
The Genome Aggregation DatabaseEuropeSub18458G=0.419C=0.580
The Genome Aggregation DatabaseGlobalStudy-wide29920G=0.522C=0.477
The Genome Aggregation DatabaseOtherSub302G=0.460C=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.594C=0.405
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.424C=0.576
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
rs22750190.000568alcohol dependence21314694

eQTL of rs2275019 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 rs2275019 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 )
chr146437735164378109E067-29999
chr146440023664400490E067-7618
chr146440049564400749E067-7359
chr146437837064378420E068-29688
chr146437857064378616E068-29492
chr146437862264378699E068-29409
chr146437878664378836E068-29272
chr146435882464359133E070-48975
chr146435914264359374E070-48734
chr146435972264360083E070-48025
chr146436016764360246E070-47862
chr146436031364361427E070-46681
chr146436402464364256E070-43852
chr146436433464364452E070-43656
chr146436445664364957E070-43151
chr146437441764374467E070-33641
chr146437456264374665E070-33443
chr146437735164378109E070-29999
chr146439959564399690E070-8418
chr146439982464400207E070-7901
chr146440080364400879E070-7229
chr146435882464359133E071-48975
chr146437726064377310E071-30798
chr146437735164378109E071-29999
chr146437837064378420E071-29688
chr146439982464400207E071-7901
chr146440023664400490E071-7618
chr146440049564400749E071-7359
chr146437837064378420E074-29688
chr146439982464400207E074-7901
chr146440023664400490E074-7618
chr146440049564400749E074-7359
chr146435882464359133E081-48975
chr146435914264359374E081-48734
chr146435972264360083E081-48025
chr146436016764360246E081-47862
chr146436402464364256E081-43852
chr146436433464364452E081-43656
chr146436445664364957E081-43151
chr146443008964430542E08121981
chr146436031364361427E082-46681
chr146436278564363778E082-44330
chr146436402464364256E082-43852
chr146436433464364452E082-43656
chr146436445664364957E082-43151
chr146437837064378420E082-29688
chr146437857064378616E082-29492
chr146437862264378699E082-29409
chr146437878664378836E082-29272
chr146439492364395019E082-13089
chr146439516364395300E082-12808
chr146439544864395500E082-12608
chr146439982464400207E082-7901
chr146440023664400490E082-7618
chr146440133964401469E082-6639
chr146442933764429398E08221229
chr146442952664429604E08221418
chr146442964264429919E08221534
chr146443008964430542E08221981
chr146443062464430678E08222516
chr146443068664430736E08222578
chr146443089164431110E08222783
chr146443988164439921E08231773