rs4801658

Homo sapiens
T>C
NLRP5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0199 (5955/29884,GnomAD)
C=0214 (6243/29118,TOPMED)
C=0217 (1087/5008,1000G)
C=0105 (403/3854,ALSPAC)
C=0109 (406/3708,TWINSUK)
chr19:56004228 (GRCh38.p7) (19q13.43)
ND
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.56004228T>C
GRCh37.p13 chr 19NC_000019.9:g.56515594T>C
NLRP5 RefSeqGeneNG_046924.1:g.22446T>C

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

Molecule type Change Amino acid[Codon] SO Term
NLRP5 transcriptNM_153447.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.626C=0.374
1000GenomesAmericanSub694T=0.840C=0.160
1000GenomesEast AsianSub1008T=0.726C=0.274
1000GenomesEuropeSub1006T=0.885C=0.115
1000GenomesGlobalStudy-wide5008T=0.783C=0.217
1000GenomesSouth AsianSub978T=0.910C=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.895C=0.105
The Genome Aggregation DatabaseAfricanSub8700T=0.665C=0.335
The Genome Aggregation DatabaseAmericanSub838T=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1596T=0.747C=0.253
The Genome Aggregation DatabaseEuropeSub18450T=0.868C=0.131
The Genome Aggregation DatabaseGlobalStudy-wide29884T=0.800C=0.199
The Genome Aggregation DatabaseOtherSub300T=0.900C=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.785C=0.214
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.891C=0.109
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
rs48016580.000816nicotine smoking19268276

eQTL of rs4801658 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 rs4801658 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 )
chr195648552356485605E071-29989
chr195648566956485719E071-29875
chr195648584256485895E071-29699
chr195648634556486479E071-29115
chr195648634556486479E073-29115