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rs28933376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28933376(C;T)
Make rs28933376(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70598417
GenePRF1
is asnp
is mentioned by
dbSNPrs28933376
ebirs28933376
HLIrs28933376
Exacrs28933376
Varsomers28933376
Maprs28933376
PheGenIrs28933376
hapmaprs28933376
1000 genomesrs28933376
hgdprs28933376
ensemblrs28933376
gopubmedrs28933376
geneviewrs28933376
scholarrs28933376
googlers28933376
pharmgkbrs28933376
gwascentralrs28933376
openSNPrs28933376
23andMers28933376
23andMe allrs28933376
SNP Nexus

SNPshotrs28933376
SNPdbers28933376
MSV3drs28933376
GWAS Ctlgrs28933376
Max Magnitude0
OMIM170280
DescHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Variant0010
Relatedalso
Neighborrs28933374
Distance270


ClinVar
Risk rs28933376(T;T)
Alt rs28933376(T;T)
Reference rs28933376(C;C)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene PRF1
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 2
Reversed 1
HGVS NC_000010.10:g.72358173G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014718.23,