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rs776245016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs776245016(A;A)
Make rs776245016(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position5558520
GeneNLRP1
is asnp
is mentioned by
dbSNPrs776245016
dbSNP (classic)rs776245016
ClinGenrs776245016
ebirs776245016
HLIrs776245016
Exacrs776245016
Gnomadrs776245016
Varsomers776245016
LitVarrs776245016
Maprs776245016
PheGenIrs776245016
Biobankrs776245016
1000 genomesrs776245016
hgdprs776245016
ensemblrs776245016
geneviewrs776245016
scholarrs776245016
googlers776245016
pharmgkbrs776245016
gwascentralrs776245016
openSNPrs776245016
23andMers776245016
SNPshotrs776245016
SNPdbers776245016
MSV3drs776245016
GWAS Ctlgrs776245016
Max Magnitude0
ClinVar
Risk rs776245016(A;A)
Alt rs776245016(A;A)
Reference Rs776245016(G;G)
Significance Pathogenic
Disease Autoinflammation with arthritis and dyskeratosis
Variation info
Gene NLRP1
CLNDBN Autoinflammation with arthritis and dyskeratosis
Reversed 0
HGVS NC_000017.10:g.5461840G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000445355.1,