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rs1060500292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500292(-;-)
Make rs1060500292(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31261731
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500292
dbSNP (classic)rs1060500292
ClinGenrs1060500292
ebirs1060500292
HLIrs1060500292
Exacrs1060500292
Gnomadrs1060500292
Varsomers1060500292
LitVarrs1060500292
Maprs1060500292
PheGenIrs1060500292
Biobankrs1060500292
1000 genomesrs1060500292
hgdprs1060500292
ensemblrs1060500292
geneviewrs1060500292
scholarrs1060500292
googlers1060500292
pharmgkbrs1060500292
gwascentralrs1060500292
openSNPrs1060500292
23andMers1060500292
SNPshotrs1060500292
SNPdbers1060500292
MSV3drs1060500292
GWAS Ctlgrs1060500292
Max Magnitude0
ClinVar
Risk rs1060500292(-;-)
Alt rs1060500292(-;-)
Reference Rs1060500292(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29588749delG
CLNSRC
CLNACC RCV000474271.1,