chr17:5519006:A>G Detail (hg19) (NLRP1)

Information

Genome

Assembly Position
hg19 chr17:5,519,006-5,519,006
hg38 chr17:5,615,686-5,615,686 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000576905.6:c.-355+3645T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.177
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 606636 OMIM
HGNC 14374 HGNC
Ensembl ENSG00000091592 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv56879672 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 nephritis Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs267... BeFree 22235789 Detail
<0.001 arthritis Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs267... BeFree 22235789 Detail
<0.001 Lupus Erythematosus, Systemic Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs267... BeFree 22235789 Detail
<0.001 prostate carcinoma Expression of snpRNAs in human and mouse cells markedly affects cellular behavio... BeFree 22067658 Detail
<0.001 Malignant neoplasm of prostate Expression of snpRNAs in human and mouse cells markedly affects cellular behavio... BeFree 22067658 Detail
Annotation

Annotations

DescrptionSourceLinks
Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs2670660 A-G haplotype w... DisGeNET Detail
Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs2670660 A-G haplotype w... DisGeNET Detail
Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs2670660 A-G haplotype w... DisGeNET Detail
Expression of snpRNAs in human and mouse cells markedly affects cellular behavior and induces allele... DisGeNET Detail
Expression of snpRNAs in human and mouse cells markedly affects cellular behavior and induces allele... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2670660 dbSNP
Genome
hg19
Position
chr17:5,519,006-5,519,006
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2670660
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.177
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2967
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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