rs7731219

Homo sapiens
A>G
PDZD2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0017 (513/30006,GnomAD)
G=0023 (696/29118,TOPMED)
G=0018 (92/5008,1000G)
G=0030 (115/3854,ALSPAC)
G=0028 (104/3708,TWINSUK)
chr5:31804466 (GRCh38.p7) (5p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
121 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.31804466A>G
GRCh37.p13 chr 5NC_000005.9:g.31804573A>G
PDZD2 RefSeqGeneNG_033962.2:g.170057A>G

Gene: PDZD2, PDZ domain containing 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PDZD2 transcriptNM_178140.3:c.N/AIntron Variant
PDZD2 transcript variant X2XM_005248269.4:c.N/AIntron Variant
PDZD2 transcript variant X1XM_011513992.2:c.N/AIntron Variant
PDZD2 transcript variant X3XM_011513993.2:c.N/AIntron Variant
PDZD2 transcript variant X4XM_011513994.2:c.N/AIntron Variant
PDZD2 transcript variant X5XM_011513995.2:c.N/AIntron Variant
PDZD2 transcript variant X6XM_011513996.2:c.N/AIntron Variant
PDZD2 transcript variant X10XM_017009246.1:c.N/AIntron Variant
PDZD2 transcript variant X8XM_005248271.1:c.N/AGenic Upstream Transcript Variant
PDZD2 transcript variant X7XM_005248272.3:c.N/AGenic Upstream Transcript Variant
PDZD2 transcript variant X11XM_006714460.2:c.N/AGenic Upstream Transcript Variant
PDZD2 transcript variant X9XM_017009245.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.987G=0.013
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=0.991G=0.009
1000GenomesEuropeSub1006A=0.973G=0.027
1000GenomesGlobalStudy-wide5008A=0.982G=0.018
1000GenomesSouth AsianSub978A=0.970G=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.970G=0.030
The Genome Aggregation DatabaseAfricanSub8734A=0.988G=0.012
The Genome Aggregation DatabaseAmericanSub838A=0.980G=0.020
The Genome Aggregation DatabaseEast AsianSub1622A=0.987G=0.013
The Genome Aggregation DatabaseEuropeSub18510A=0.980G=0.019
The Genome Aggregation DatabaseGlobalStudy-wide30006A=0.982G=0.017
The Genome Aggregation DatabaseOtherSub302A=0.970G=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.976G=0.023
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.972G=0.028
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
rs77312190.000988alcohol dependence21314694

eQTL of rs7731219 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 rs7731219 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 )
chr53175486931755087E067-49486
chr53175512731755293E067-49280
chr53175533231755372E067-49201
chr53175773531757931E067-46642
chr53175795331758177E067-46396
chr53180974731809889E0675174
chr53182556831826032E06720995
chr53184723031847284E06742657
chr53184742931847787E06742856
chr53184782931847975E06743256
chr53175467031754721E068-49852
chr53175486931755087E068-49486
chr53175512731755293E068-49280
chr53175533231755372E068-49201
chr53175594931756078E068-48495
chr53175611731756235E068-48338
chr53175795331758177E068-46396
chr53176901731769170E068-35403
chr53176934131769422E068-35151
chr53176969631769767E068-34806
chr53176981231769885E068-34688
chr53177013031770270E068-34303
chr53177032331770617E068-33956
chr53177063231770709E068-33864
chr53177076831770838E068-33735
chr53177109231771172E068-33401
chr53177127731771416E068-33157
chr53178722831787293E068-17280
chr53180974731809889E0685174
chr53181138231811652E0686809
chr53182556831826032E06820995
chr53184723031847284E06842657
chr53184742931847787E06842856
chr53184782931847975E06843256
chr53185364331853899E06849070
chr53175467031754721E069-49852
chr53175486931755087E069-49486
chr53175512731755293E069-49280
chr53175773531757931E069-46642
chr53175795331758177E069-46396
chr53176981231769885E069-34688
chr53177013031770270E069-34303
chr53177032331770617E069-33956
chr53177063231770709E069-33864
chr53177076831770838E069-33735
chr53182556831826032E06920995
chr53184655331846603E06941980
chr53184723031847284E06942657
chr53184742931847787E06942856
chr53184782931847975E06943256
chr53175467031754721E070-49852
chr53175486931755087E070-49486
chr53175512731755293E070-49280
chr53175533231755372E070-49201
chr53175467031754721E071-49852
chr53175486931755087E071-49486
chr53175512731755293E071-49280
chr53175533231755372E071-49201
chr53175795331758177E071-46396
chr53176981231769885E071-34688
chr53177013031770270E071-34303
chr53177032331770617E071-33956
chr53177063231770709E071-33864
chr53177076831770838E071-33735
chr53181138231811652E0716809
chr53182556831826032E07120995
chr53184723031847284E07142657
chr53184742931847787E07142856
chr53184782931847975E07143256
chr53184830731848408E07143734
chr53185364331853899E07149070
chr53175467031754721E072-49852
chr53175486931755087E072-49486
chr53175512731755293E072-49280
chr53175533231755372E072-49201
chr53175594931756078E072-48495
chr53175611731756235E072-48338
chr53177013031770270E072-34303
chr53177032331770617E072-33956
chr53180974731809889E0725174
chr53181138231811652E0726809
chr53184723031847284E07242657
chr53184742931847787E07242856
chr53184782931847975E07243256
chr53175486931755087E073-49486
chr53175512731755293E073-49280
chr53175533231755372E073-49201
chr53175594931756078E073-48495
chr53175611731756235E073-48338
chr53176981231769885E073-34688
chr53177013031770270E073-34303
chr53177032331770617E073-33956
chr53177063231770709E073-33864
chr53177076831770838E073-33735
chr53177109231771172E073-33401
chr53177127731771416E073-33157
chr53177154631771939E073-32634
chr53184723031847284E07342657
chr53184742931847787E07342856
chr53184782931847975E07343256
chr53176893531768991E074-35582
chr53176981231769885E074-34688
chr53177013031770270E074-34303
chr53177032331770617E074-33956
chr53177063231770709E074-33864
chr53177076831770838E074-33735
chr53178616231786726E074-17847
chr53178722831787293E074-17280
chr53182556831826032E07420995
chr53184723031847284E07442657
chr53178207631782178E081-22395
chr53178390531784331E081-20242
chr53180791231807952E0813339
chr53180805931808169E0813486
chr53184655331846603E08141980
chr53184723031847284E08142657
chr53184742931847787E08142856
chr53184782931847975E08143256
chr53185364331853899E08149070
chr53184742931847787E08242856
chr53184782931847975E08243256