rs4834729

Homo sapiens
C>T
SYNPO2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0165 (4960/29938,GnomAD)
T=0138 (4040/29118,TOPMED)
T=0153 (767/5008,1000G)
T=0205 (791/3854,ALSPAC)
T=0214 (792/3708,TWINSUK)
chr4:118943912 (GRCh38.p7) (4q26)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.118943912C>T
GRCh37.p13 chr 4NC_000004.11:g.119865067C>T

Gene: SYNPO2, synaptopodin 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SYNPO2 transcript variant 2NM_001128933.2:c.N/AIntron Variant
SYNPO2 transcript variant 3NM_001128934.2:c.N/AIntron Variant
SYNPO2 transcript variant 4NM_001286754.1:c.N/AIntron Variant
SYNPO2 transcript variant 5NM_001286755.1:c.N/AIntron Variant
SYNPO2 transcript variant 1NM_133477.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.983T=0.017
1000GenomesAmericanSub694C=0.860T=0.140
1000GenomesEast AsianSub1008C=0.765T=0.235
1000GenomesEuropeSub1006C=0.793T=0.207
1000GenomesGlobalStudy-wide5008C=0.847T=0.153
1000GenomesSouth AsianSub978C=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.795T=0.205
The Genome Aggregation DatabaseAfricanSub8730C=0.955T=0.045
The Genome Aggregation DatabaseAmericanSub838C=0.870T=0.130
The Genome Aggregation DatabaseEast AsianSub1606C=0.759T=0.241
The Genome Aggregation DatabaseEuropeSub18462C=0.781T=0.218
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.834T=0.165
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.861T=0.138
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.786T=0.214
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
rs48347290.000436alcohol dependence21314694

eQTL of rs4834729 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 rs4834729 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 )
chr4119825711119825822E068-39245
chr4119826015119826065E068-39002
chr4119826096119826322E068-38745
chr4119839539119839931E068-25136
chr4119862259119862329E068-2738
chr4119862446119862569E068-2498
chr4119863064119863220E068-1847
chr4119873259119873309E0688192
chr4119875024119875130E0689957
chr4119875184119875264E06810117
chr4119875482119875706E06810415
chr4119888498119889859E06823431
chr4119889999119890152E06824932
chr4119892622119892666E06827555
chr4119902411119903508E06837344
chr4119875024119875130E0699957
chr4119875184119875264E06910117
chr4119888498119889859E06923431
chr4119842930119843076E070-21991
chr4119826015119826065E071-39002
chr4119826096119826322E071-38745
chr4119849505119849555E071-15512
chr4119849622119849739E071-15328
chr4119875024119875130E0719957
chr4119875184119875264E07110117
chr4119875482119875706E07110415
chr4119888498119889859E07323431
chr4119889999119890152E07324932
chr4119826811119827007E074-38060
chr4119875024119875130E0749957
chr4119875184119875264E07410117
chr4119888498119889859E07423431
chr4119902411119903508E07437344
chr4119842930119843076E082-21991