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rs28933374

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28933374(C;T)
Make rs28933374(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70598687
GenePRF1
is asnp
is mentioned by
dbSNPrs28933374
ebirs28933374
HLIrs28933374
Exacrs28933374
Varsomers28933374
Maprs28933374
PheGenIrs28933374
hapmaprs28933374
1000 genomesrs28933374
hgdprs28933374
ensemblrs28933374
gopubmedrs28933374
geneviewrs28933374
scholarrs28933374
googlers28933374
pharmgkbrs28933374
gwascentralrs28933374
openSNPrs28933374
23andMers28933374
23andMe allrs28933374
SNP Nexus

SNPshotrs28933374
SNPdbers28933374
MSV3drs28933374
GWAS Ctlgrs28933374
Max Magnitude0
OMIM170280
DescHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Variant0006
Relatedalso
Neighborrs28933376
Distance270
Neighborrs28933375
Distance279


ClinVar
Risk rs28933374(A,T;A,T)
Alt rs28933374(A,T;A,T)
Reference rs28933374(C;C)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene PRF1
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 2
Reversed 1
HGVS NC_000010.10:g.72358443G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014713.23,