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rs35418374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35418374(C;T)
Make rs35418374(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70600892
GenePRF1
is asnp
is mentioned by
dbSNPrs35418374
ebirs35418374
HLIrs35418374
Exacrs35418374
Varsomers35418374
Maprs35418374
PheGenIrs35418374
hapmaprs35418374
1000 genomesrs35418374
hgdprs35418374
ensemblrs35418374
gopubmedrs35418374
geneviewrs35418374
scholarrs35418374
googlers35418374
pharmgkbrs35418374
gwascentralrs35418374
openSNPrs35418374
23andMers35418374
23andMe allrs35418374
SNP Nexus

SNPshotrs35418374
SNPdbers35418374
MSV3drs35418374
GWAS Ctlgrs35418374
GMAF0.02112
Max Magnitude0
OMIM170280
Desc
Variant0013
Relatedalso


ClinVar
Risk rs35418374(T;T)
Alt rs35418374(T;T)
Reference rs35418374(C;C)
Significance Pathogenic
Disease Aplastic anemia
Variation info
Gene PRF1
CLNDBN Aplastic anemia
Reversed 0
HGVS NC_000010.10:g.72360648C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014723.22,



GET Evidence
PRF1-R4H
aa_change Arg4His
aa_change_short R4H
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.0272881
summary This rare variant was reported seen in an individual with acquired aplastic anemia, but the frequency of this allele in controls indicates is no different from the cases, indicating this is likely a polymorphism without dramatic functional effect.