Rs104894180

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894180(C;T)
Make rs104894180(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70600713
GenePRF1
is asnp
is mentioned by
dbSNPrs104894180
Exacrs104894180
PheGenIrs104894180
nextbiors104894180
hapmaprs104894180
1000 genomesrs104894180
hgdprs104894180
ensemblrs104894180
gopubmedrs104894180
geneviewrs104894180
scholarrs104894180
googlers104894180
pharmgkbrs104894180
gwascentralrs104894180
openSNPrs104894180
23andMers104894180
23andMe allrs104894180
SNP Nexus

SNPshotrs104894180
SNPdbers104894180
MSV3drs104894180
Max Magnitude0
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 RCV000014710.24,