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rs1060499556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499556(G;G)
Make rs1060499556(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position70598601
GenePRF1
is asnp
is mentioned by
dbSNPrs1060499556
dbSNP (classic)rs1060499556
ClinGenrs1060499556
ebirs1060499556
HLIrs1060499556
Exacrs1060499556
Gnomadrs1060499556
Varsomers1060499556
LitVarrs1060499556
Maprs1060499556
PheGenIrs1060499556
Biobankrs1060499556
1000 genomesrs1060499556
hgdprs1060499556
ensemblrs1060499556
geneviewrs1060499556
scholarrs1060499556
googlers1060499556
pharmgkbrs1060499556
gwascentralrs1060499556
openSNPrs1060499556
23andMers1060499556
SNPshotrs1060499556
SNPdbers1060499556
MSV3drs1060499556
GWAS Ctlgrs1060499556
Max Magnitude0
ClinVar
Risk rs1060499556(G;G)
Alt rs1060499556(G;G)
Reference Rs1060499556(T;T)
Significance Probable-Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene PRF1
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 2
Reversed 1
HGVS NC_000010.10:g.72358357A>C
CLNSRC
CLNACC RCV000449644.1,