SNP Detail Info-rs2472188

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

IL36RN : 3 Prime UTR Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0364 (10896/29900,GnomAD)
C==0328 (9557/29116,TOPMED)
C==0285 (1426/5008,1000G)
C==0414 (1597/3854,ALSPAC)
C==0393 (1456/3708,TWINSUK)

Position: chr2:113063237 (GRCh38.p7) (2q14.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
IL36RN transcript variant 1	NM_012275.2:c.	N/A	3 Prime UTR Variant
IL36RN transcript variant 2	NM_173170.1:c.	N/A	3 Prime UTR Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.281	G=0.719
1000Genomes	American	Sub	694	C=0.320	G=0.680
1000Genomes	East Asian	Sub	1008	C=0.269	G=0.731
1000Genomes	Europe	Sub	1006	C=0.379	G=0.621
1000Genomes	Global	Study-wide	5008	C=0.285	G=0.715
1000Genomes	South Asian	Sub	978	C=0.180	G=0.820
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.414	G=0.586
The Genome Aggregation Database	African	Sub	8698	C=0.290	G=0.710
The Genome Aggregation Database	American	Sub	838	C=0.290	G=0.710
The Genome Aggregation Database	East Asian	Sub	1618	C=0.307	G=0.693
The Genome Aggregation Database	Europe	Sub	18444	C=0.409	G=0.591
The Genome Aggregation Database	Global	Study-wide	29900	C=0.364	G=0.635
The Genome Aggregation Database	Other	Sub	302	C=0.320	G=0.680
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.328	G=0.671
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.393	G=0.607

rs2472188