Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
Make rs104894180(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70600713
GenePRF1
is asnp
is mentioned by
dbSNPrs104894180
dbSNP (classic)rs104894180
ClinGenrs104894180
ebirs104894180
HLIrs104894180
Exacrs104894180
Gnomadrs104894180
Varsomers104894180
LitVarrs104894180
Maprs104894180
PheGenIrs104894180
Biobankrs104894180
1000 genomesrs104894180
hgdprs104894180
ensemblrs104894180
geneviewrs104894180
scholarrs104894180
googlers104894180
pharmgkbrs104894180
gwascentralrs104894180
openSNPrs104894180
23andMers104894180
SNPshotrs104894180
SNPdbers104894180
MSV3drs104894180
GWAS Ctlgrs104894180
Max Magnitude3

c.190C>T (p.Gln64Ter)

23andMe name: i5000835

OMIM170280
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894180(T;T)
Alt rs104894180(T;T)
Reference Rs104894180(C;C)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene PRF1
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 2
Reversed 1
HGVS NC_000010.10:g.72360469G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014710.27,