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rs863224447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 5.5 Neurofibromatosis type 1
(G;G) 0 common in clinvar


Make rs863224447(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position31236021
GeneNF1
is asnp
is mentioned by
dbSNPrs863224447
dbSNP (classic)rs863224447
ClinGenrs863224447
ebirs863224447
HLIrs863224447
Exacrs863224447
Gnomadrs863224447
Varsomers863224447
LitVarrs863224447
Maprs863224447
PheGenIrs863224447
Biobankrs863224447
1000 genomesrs863224447
hgdprs863224447
ensemblrs863224447
geneviewrs863224447
scholarrs863224447
googlers863224447
pharmgkbrs863224447
gwascentralrs863224447
openSNPrs863224447
23andMers863224447
SNPshotrs863224447
SNPdbers863224447
MSV3drs863224447
GWAS Ctlgrs863224447
Max Magnitude5.5
ClinVar
Risk rs863224447(C;C)
Alt rs863224447(C;C)
Reference Rs863224447(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29563039G>C
CLNSRC
CLNACC RCV000199605.1,