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rs771552960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AG) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
(AG;AG) 0 common in clinvar


Make rs771552960(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position70598630
GenePRF1
is asnp
is mentioned by
dbSNPrs771552960
dbSNP (classic)rs771552960
ClinGenrs771552960
ebirs771552960
HLIrs771552960
Exacrs771552960
Gnomadrs771552960
Varsomers771552960
LitVarrs771552960
Maprs771552960
PheGenIrs771552960
Biobankrs771552960
1000 genomesrs771552960
hgdprs771552960
ensemblrs771552960
geneviewrs771552960
scholarrs771552960
googlers771552960
pharmgkbrs771552960
gwascentralrs771552960
openSNPrs771552960
23andMers771552960
SNPshotrs771552960
SNPdbers771552960
MSV3drs771552960
GWAS Ctlgrs771552960
Max Magnitude3

c.1090_1091delCT (p.Leu364Glufs)

ClinVar
Risk rs771552960(-;-)
Alt rs771552960(-;-)
Reference Rs771552960(AG;AG)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene PRF1
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 2
Reversed 0
HGVS NC_000010.10:g.72358386_72358387delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000014724.27,