rs2238493

Homo sapiens
T>C
PRKCB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0101 (3042/29940,GnomAD)
C=0098 (2866/29118,TOPMED)
C=0126 (632/5008,1000G)
C=0093 (359/3854,ALSPAC)
C=0098 (363/3708,TWINSUK)
chr16:24145625 (GRCh38.p7) (16p12.2)
AD
GWASdb2
1   publication(s)
See rs on genome
178 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.24145625T>C
GRCh37.p13 chr 16NC_000016.9:g.24156946T>C
PRKCB RefSeqGeneNG_029003.1:g.314647T>C

Gene: PRKCB, protein kinase C beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRKCB transcript variant 2NM_002738.6:c.N/AIntron Variant
PRKCB transcript variant 1NM_212535.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.925C=0.075
1000GenomesAmericanSub694T=0.930C=0.070
1000GenomesEast AsianSub1008T=0.787C=0.213
1000GenomesEuropeSub1006T=0.891C=0.109
1000GenomesGlobalStudy-wide5008T=0.874C=0.126
1000GenomesSouth AsianSub978T=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.907C=0.093
The Genome Aggregation DatabaseAfricanSub8706T=0.912C=0.088
The Genome Aggregation DatabaseAmericanSub838T=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1616T=0.763C=0.237
The Genome Aggregation DatabaseEuropeSub18478T=0.901C=0.098
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.898C=0.101
The Genome Aggregation DatabaseOtherSub302T=0.960C=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.901C=0.098
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.902C=0.098
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
rs22384930.000929alcohol dependence21314694

eQTL of rs2238493 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 rs2238493 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 )
chr162411290924113999E067-42947
chr162411881324118863E067-38083
chr162412781024127983E067-28963
chr162412800624128122E067-28824
chr162412816824128882E067-28064
chr162412894024128991E067-27955
chr162412907124129294E067-27652
chr162412931224129648E067-27298
chr162412969424129975E067-26971
chr162413004824130149E067-26797
chr162413072924130792E067-26154
chr162413082624130948E067-25998
chr162413105424131117E067-25829
chr162413128924131339E067-25607
chr162413138224131432E067-25514
chr162413159024131640E067-25306
chr162413189924132010E067-24936
chr162413225624132420E067-24526
chr162411173624111786E068-45160
chr162411290924113999E068-42947
chr162412816824128882E068-28064
chr162412894024128991E068-27955
chr162412907124129294E068-27652
chr162412931224129648E068-27298
chr162412969424129975E068-26971
chr162413004824130149E068-26797
chr162413072924130792E068-26154
chr162413082624130948E068-25998
chr162413105424131117E068-25829
chr162413128924131339E068-25607
chr162413138224131432E068-25514
chr162413159024131640E068-25306
chr162413189924132010E068-24936
chr162418496724185007E06828021
chr162411257924112644E069-44302
chr162411290924113999E069-42947
chr162411421824114258E069-42688
chr162412781024127983E069-28963
chr162412800624128122E069-28824
chr162412816824128882E069-28064
chr162412894024128991E069-27955
chr162412907124129294E069-27652
chr162412931224129648E069-27298
chr162413072924130792E069-26154
chr162413082624130948E069-25998
chr162413105424131117E069-25829
chr162413128924131339E069-25607
chr162413138224131432E069-25514
chr162413159024131640E069-25306
chr162413189924132010E069-24936
chr162413225624132420E069-24526
chr162416667324166734E0699727
chr162416697124167054E06910025
chr162411257924112644E070-44302
chr162411290924113999E070-42947
chr162411421824114258E070-42688
chr162412969424129975E070-26971
chr162413004824130149E070-26797
chr162413105424131117E070-25829
chr162414691424147052E070-9894
chr162414933324149424E070-7522
chr162414945024149711E070-7235
chr162414992824149978E070-6968
chr162415002424150155E070-6791
chr162411421824114258E071-42688
chr162412816824128882E071-28064
chr162412894024128991E071-27955
chr162412907124129294E071-27652
chr162412931224129648E071-27298
chr162412969424129975E071-26971
chr162413004824130149E071-26797
chr162413072924130792E071-26154
chr162413082624130948E071-25998
chr162413105424131117E071-25829
chr162413128924131339E071-25607
chr162413138224131432E071-25514
chr162413159024131640E071-25306
chr162413189924132010E071-24936
chr162413225624132420E071-24526
chr162413261424132664E071-24282
chr162413274224132792E071-24154
chr162413305824133357E071-23589
chr162411233024112370E072-44576
chr162411290924113999E072-42947
chr162412781024127983E072-28963
chr162412800624128122E072-28824
chr162412816824128882E072-28064
chr162412894024128991E072-27955
chr162412907124129294E072-27652
chr162412931224129648E072-27298
chr162412969424129975E072-26971
chr162413004824130149E072-26797
chr162413072924130792E072-26154
chr162413082624130948E072-25998
chr162413105424131117E072-25829
chr162413128924131339E072-25607
chr162413138224131432E072-25514
chr162413159024131640E072-25306
chr162413189924132010E072-24936
chr162413225624132420E072-24526
chr162413261424132664E072-24282
chr162413274224132792E072-24154
chr162413305824133357E072-23589
chr162416648624166526E0729540
chr162416667324166734E0729727
chr162416697124167054E07210025
chr162416727224167332E07210326
chr162411290924113999E073-42947
chr162412781024127983E073-28963
chr162412800624128122E073-28824
chr162412816824128882E073-28064
chr162412907124129294E073-27652
chr162412931224129648E073-27298
chr162412969424129975E073-26971
chr162413004824130149E073-26797
chr162413072924130792E073-26154
chr162413082624130948E073-25998
chr162413105424131117E073-25829
chr162413128924131339E073-25607
chr162413138224131432E073-25514
chr162413159024131640E073-25306
chr162413225624132420E073-24526
chr162415387124153942E073-3004
chr162415706224157112E073116
chr162415715324157203E073207
chr162415736424157448E073418
chr162418496724185007E07328021
chr162418631524186529E07329369
chr162418688324186943E07329937
chr162418699124187073E07330045
chr162411257924112644E074-44302
chr162411290924113999E074-42947
chr162412816824128882E074-28064
chr162412894024128991E074-27955
chr162412907124129294E074-27652
chr162412931224129648E074-27298
chr162412969424129975E074-26971
chr162413004824130149E074-26797
chr162413072924130792E074-26154
chr162413082624130948E074-25998
chr162413105424131117E074-25829
chr162413128924131339E074-25607
chr162413138224131432E074-25514
chr162413159024131640E074-25306
chr162413189924132010E074-24936
chr162413225624132420E074-24526
chr162416667324166734E0749727
chr162416697124167054E07410025
chr162416727224167332E07410326
chr162411290924113999E081-42947
chr162414691424147052E081-9894
chr162414705724147871E081-9075
chr162417540224175561E08118456
chr162417795424178004E08121008
chr162417809724178517E08121151
chr162417876924178819E08121823
chr162417896024179010E08122014
chr162417923224179282E08122286
chr162417947424179528E08122528
chr162417953324179581E08122587
chr162417966524179849E08122719
chr162417990924179963E08122963
chr162418008124180584E08123135
chr162418094724181043E08124001
chr162411290924113999E082-42947
chr162414647124146581E082-10365
chr162414691424147052E082-9894
chr162414705724147871E082-9075
chr162414793724147997E082-8949
chr162414800124148124E082-8822
chr162417795424178004E08221008
chr162417809724178517E08221151
chr162417876924178819E08221823
chr162417896024179010E08222014
chr162417923224179282E08222286
chr162417947424179528E08222528
chr162417953324179581E08222587
chr162417966524179849E08222719