rs10483734

Homo sapiens
T>C
PRKCH : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0143 (4301/29938,GnomAD)
C=0172 (5020/29118,TOPMED)
C=0194 (971/5008,1000G)
C=0049 (188/3854,ALSPAC)
C=0052 (194/3708,TWINSUK)
chr14:61471083 (GRCh38.p7) (14q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
115 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.61471083T>C
GRCh37.p13 chr 14NC_000014.8:g.61937801T>C
PRKCH RefSeqGeneNG_011514.1:g.154287T>C

Gene: PRKCH, protein kinase C eta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRKCH transcriptNM_006255.4:c.N/AIntron Variant
PRKCH transcript variant X1XM_011536954.2:c.N/AIntron Variant
PRKCH transcript variant X2XM_011536955.1:c.N/AIntron Variant
PRKCH transcript variant X3XM_011536956.1:c.N/AIntron Variant
PRKCH transcript variant X7XM_011536957.1:c.N/AIntron Variant
PRKCH transcript variant X5XM_017021458.1:c.N/AIntron Variant
PRKCH transcript variant X8XM_017021459.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.650C=0.350
1000GenomesAmericanSub694T=0.950C=0.050
1000GenomesEast AsianSub1008T=0.673C=0.327
1000GenomesEuropeSub1006T=0.943C=0.057
1000GenomesGlobalStudy-wide5008T=0.806C=0.194
1000GenomesSouth AsianSub978T=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.951C=0.049
The Genome Aggregation DatabaseAfricanSub8700T=0.698C=0.302
The Genome Aggregation DatabaseAmericanSub838T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1618T=0.696C=0.304
The Genome Aggregation DatabaseEuropeSub18480T=0.938C=0.061
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.856C=0.143
The Genome Aggregation DatabaseOtherSub302T=0.980C=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.827C=0.172
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.948C=0.052
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs104837341.2E-05alcohol dependence19581569

eQTL of rs10483734 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 rs10483734 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 )
chr146193633961940425E0670
chr146194438661945248E0676585
chr146194532861945426E0677527
chr146194544061945528E0677639
chr146194559161947675E0677790
chr146195529861957147E06717497
chr146195769661957784E06719895
chr146190644861906583E068-31218
chr146190664761906727E068-31074
chr146190679861906878E068-30923
chr146193407761934159E068-3642
chr146193421261934367E068-3434
chr146193438661934655E068-3146
chr146193466061934724E068-3077
chr146193477361934825E068-2976
chr146193490961935059E068-2742
chr146194292961944275E0685128
chr146194438661945248E0686585
chr146194532861945426E0687527
chr146194544061945528E0687639
chr146194559161947675E0687790
chr146194768261948084E0689881
chr146195529861957147E06817497
chr146195795661958020E06820155
chr146195804461958285E06820243
chr146195843861958565E06820637
chr146197749861977746E06839697
chr146197779161977841E06839990
chr146197785861977927E06840057
chr146198434861984398E06846547
chr146198722861987800E06849427
chr146193633961940425E0690
chr146195529861957147E06917497
chr146198042961981430E06942628
chr146198152461981574E06943723
chr146191559861915648E070-22153
chr146191576761915912E070-21889
chr146191594061915990E070-21811
chr146191603061916155E070-21646
chr146193633961940425E0700
chr146190664761906727E071-31074
chr146190679861906878E071-30923
chr146193266261933947E071-3854
chr146193555261935629E071-2172
chr146193568961935776E071-2025
chr146193587961935979E071-1822
chr146193609861936282E071-1519
chr146194271961942925E0714918
chr146194292961944275E0715128
chr146194438661945248E0716585
chr146194532861945426E0717527
chr146194544061945528E0717639
chr146194559161947675E0717790
chr146195529861957147E07117497
chr146195728761957364E07119486
chr146195752861957578E07119727
chr146195769661957784E07119895
chr146195782661957904E07120025
chr146195795661958020E07120155
chr146195804461958285E07120243
chr146196046961960556E07122668
chr146197795661978755E07140155
chr146198042961981430E07142628
chr146198152461981574E07143723
chr146190644861906583E072-31218
chr146193633961940425E0720
chr146194438661945248E0726585
chr146194901561949847E07211214
chr146194996461950029E07212163
chr146195529861957147E07217497
chr146193633961940425E0730
chr146194292961944275E0735128
chr146194438661945248E0736585
chr146194559161947675E0737790
chr146195804461958285E07320243
chr146195843861958565E07320637
chr146195871461958968E07320913
chr146192908861929152E074-8649
chr146192915561929323E074-8478
chr146192933061930056E074-7745
chr146193509861935215E074-2586
chr146193527361935407E074-2394
chr146193541561935509E074-2292
chr146193555261935629E074-2172
chr146193568961935776E074-2025
chr146193587961935979E074-1822
chr146193609861936282E074-1519
chr146193633961940425E0740
chr146194059561940645E0742794
chr146194077061941131E0742969
chr146194438661945248E0746585
chr146194532861945426E0747527
chr146194544061945528E0747639
chr146194559161947675E0747790
chr146195529861957147E07417497
chr146198152461981574E07443723
chr146198159461982394E07443793
chr146198440061984467E07446599
chr146198448561985144E07446684
chr146198635161986408E07448550
chr146198649661986567E07448695
chr146198661061986737E07448809
chr146198722861987800E07449427
chr146192908861929152E081-8649
chr146192915561929323E081-8478
chr146192933061930056E081-7745
chr146193034761931042E081-6759
chr146193117561931308E081-6493
chr146193633961940425E0810
chr146198152461981574E08143723
chr146198159461982394E08143793
chr146193609861936282E082-1519
chr146193633961940425E0820
chr146197740861977458E08239607
chr146197749861977746E08239697