Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514692(C;C)
Make rs397514692(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position5583728
GeneNLRP1
is asnp
is mentioned by
dbSNPrs397514692
ebirs397514692
HLIrs397514692
Exacrs397514692
Varsomers397514692
Maprs397514692
PheGenIrs397514692
hapmaprs397514692
1000 genomesrs397514692
hgdprs397514692
ensemblrs397514692
gopubmedrs397514692
geneviewrs397514692
scholarrs397514692
googlers397514692
pharmgkbrs397514692
gwascentralrs397514692
openSNPrs397514692
23andMers397514692
23andMe allrs397514692
SNP Nexus

SNPshotrs397514692
SNPdbers397514692
MSV3drs397514692
GWAS Ctlgrs397514692
Max Magnitude0
ClinVar
Risk rs397514692(C;C)
Alt rs397514692(C;C)
Reference rs397514692(T;T)
Significance Pathogenic
Disease Corneal intraepithelial dyskeratosis and ectodermal dysplasia
Variation info
Gene NLRP1
CLNDBN Corneal intraepithelial dyskeratosis and ectodermal dysplasia
Reversed 1
HGVS NC_000017.10:g.5487048A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043505.3,