rs16822370

Homo sapiens
G>T
PPP1R1C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0072 (2158/29924,GnomAD)
T=0096 (2819/29118,TOPMED)
T=0110 (551/5008,1000G)
T=0031 (120/3854,ALSPAC)
T=0036 (132/3708,TWINSUK)
chr2:182041984 (GRCh38.p7) (2q31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.182041984G>T
GRCh37.p13 chr 2NC_000002.11:g.182906711G>T

Gene: PPP1R1C, protein phosphatase 1 regulatory inhibitor subunit 1C(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PPP1R1C transcript variant 3NM_001080545.2:c.N/AIntron Variant
PPP1R1C transcript variant 1NM_001261424.1:c.N/AIntron Variant
PPP1R1C transcript variant 2NM_001261425.1:c.N/AIntron Variant
PPP1R1C transcript variant 4NR_048566.1:n.N/AIntron Variant
PPP1R1C transcript variant 5NR_048567.1:n.N/AIntron Variant
PPP1R1C transcript variant X1XM_017003451.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.825T=0.175
1000GenomesAmericanSub694G=0.920T=0.080
1000GenomesEast AsianSub1008G=0.815T=0.185
1000GenomesEuropeSub1006G=0.964T=0.036
1000GenomesGlobalStudy-wide5008G=0.890T=0.110
1000GenomesSouth AsianSub978G=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.969T=0.031
The Genome Aggregation DatabaseAfricanSub8710G=0.856T=0.144
The Genome Aggregation DatabaseAmericanSub836G=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1618G=0.813T=0.187
The Genome Aggregation DatabaseEuropeSub18458G=0.971T=0.029
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.927T=0.072
The Genome Aggregation DatabaseOtherSub302G=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.903T=0.096
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.964T=0.036
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
rs168223700.000555alcohol dependence21314694

eQTL of rs16822370 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:182906711PDE1AENSG00000115252.14G>T3.6656e-4-481208Cerebellar_Hemisphere

meQTL of rs16822370 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 )
chr2182942224182942708E06835513
chr2182929161182929418E06922450
chr2182929462182929655E06922751
chr2182942224182942708E07135513
chr2182942224182942708E07235513
chr2182942746182942800E07236035