rs16986899

Homo sapiens
T>C
NLRP5 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0199 (24075/120736,ExAC)
C=0247 (7378/29858,GnomAD)
C=0270 (7865/29118,TOPMED)
T==0239 (3030/12658,GO-ESP)
C=0265 (1327/5008,1000G)
C=0171 (658/3854,ALSPAC)
C=0177 (655/3708,TWINSUK)
chr19:56038144 (GRCh38.p7) (19q13.43)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.56038144T>C
GRCh37.p13 chr 19NC_000019.9:g.56549510T>C
NLRP5 RefSeqGeneNG_046924.1:g.56362T>C

Gene: NLRP5, NLR family, pyrin domain containing 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NLRP5 transcriptNM_153447.4:c.273...NM_153447.4:c.2735T>CM [ATG]> T [ACG]Coding Sequence Variant
NACHT, LRR and PYD domains-containing protein 5NP_703148.4:p.Met...NP_703148.4:p.Met912ThrM [Met]> T [Thr]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.551C=0.449
1000GenomesAmericanSub694T=0.860C=0.140
1000GenomesEast AsianSub1008T=0.699C=0.301
1000GenomesEuropeSub1006T=0.811C=0.189
1000GenomesGlobalStudy-wide5008T=0.735C=0.265
1000GenomesSouth AsianSub978T=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.829C=0.171
The Exome Aggregation ConsortiumAmericanSub21382T=0.728C=0.271
The Exome Aggregation ConsortiumAsianSub25118T=0.796C=0.203
The Exome Aggregation ConsortiumEuropeSub73336T=0.823C=0.177
The Exome Aggregation ConsortiumGlobalStudy-wide120736T=0.800C=0.199
The Exome Aggregation ConsortiumOtherSub900T=0.820C=0.180
The Genome Aggregation DatabaseAfricanSub8672T=0.597C=0.403
The Genome Aggregation DatabaseAmericanSub838T=0.800C=0.200
The Genome Aggregation DatabaseEast AsianSub1600T=0.721C=0.279
The Genome Aggregation DatabaseEuropeSub18446T=0.826C=0.173
The Genome Aggregation DatabaseGlobalStudy-wide29858T=0.752C=0.247
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.729C=0.270
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.823C=0.177
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs169868990.000881nicotine smoking19268276

eQTL of rs16986899 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 rs16986899 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.