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rs35947132

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Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35947132(A;A)
Make rs35947132(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position70600631
GenePRF1
is asnp
is mentioned by
dbSNPrs35947132
ebirs35947132
HLIrs35947132
Exacrs35947132
Varsomers35947132
Maprs35947132
PheGenIrs35947132
hapmaprs35947132
1000 genomesrs35947132
hgdprs35947132
ensemblrs35947132
gopubmedrs35947132
geneviewrs35947132
scholarrs35947132
googlers35947132
pharmgkbrs35947132
gwascentralrs35947132
openSNPrs35947132
23andMers35947132
23andMe allrs35947132
SNP Nexus

SNPshotrs35947132
SNPdbers35947132
MSV3drs35947132
GWAS Ctlgrs35947132
GMAF0.02158
Max Magnitude0
OMIM170280
Desc
Variant0011
Relatedalso


ClinVar
Risk rs35947132(A;A)
Alt rs35947132(A;A)
Reference rs35947132(G;G)
Significance Other
Disease Hemophagocytic lymphohistiocytosis Lymphoma Aplastic anemia not provided
Variation info
Gene PRF1
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to Lymphoma, non-Hodgkin, susceptibility to Aplastic anemia, susceptibility to not provided
Reversed 0
HGVS NC_000010.10:g.72360387G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014719.4, RCV000014720.4, RCV000014721.4, RCV000224458.1,



[PMID 18661762] Macrophage activation syndrome in 13 children with systemic-onset juvenile idiopathic arthritis.


GET Evidence
PRF1-A91V
aa_change Ala91Val
aa_change_short A91V
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.0325339
summary This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.



[PMID 23528102] Association between granzyme B and perforin I polymorphisms and allograft outcomes in Hispanic kidney transplant recipients