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rs1060500286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500286(A;A)
Make rs1060500286(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31343053
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500286
dbSNP (classic)rs1060500286
ClinGenrs1060500286
ebirs1060500286
HLIrs1060500286
Exacrs1060500286
Gnomadrs1060500286
Varsomers1060500286
LitVarrs1060500286
Maprs1060500286
PheGenIrs1060500286
Biobankrs1060500286
1000 genomesrs1060500286
hgdprs1060500286
ensemblrs1060500286
geneviewrs1060500286
scholarrs1060500286
googlers1060500286
pharmgkbrs1060500286
gwascentralrs1060500286
openSNPrs1060500286
23andMers1060500286
SNPshotrs1060500286
SNPdbers1060500286
MSV3drs1060500286
GWAS Ctlgrs1060500286
Max Magnitude0
ClinVar
Risk rs1060500286(A;A)
Alt rs1060500286(A;A)
Reference Rs1060500286(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29670071G>A
CLNSRC
CLNACC RCV000461823.1,