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rs1060500335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500335(-;-)
Make rs1060500335(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31350234
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500335
dbSNP (classic)rs1060500335
ClinGenrs1060500335
ebirs1060500335
HLIrs1060500335
Exacrs1060500335
Gnomadrs1060500335
Varsomers1060500335
LitVarrs1060500335
Maprs1060500335
PheGenIrs1060500335
Biobankrs1060500335
1000 genomesrs1060500335
hgdprs1060500335
ensemblrs1060500335
geneviewrs1060500335
scholarrs1060500335
googlers1060500335
pharmgkbrs1060500335
gwascentralrs1060500335
openSNPrs1060500335
23andMers1060500335
SNPshotrs1060500335
SNPdbers1060500335
MSV3drs1060500335
GWAS Ctlgrs1060500335
Max Magnitude0
ClinVar
Risk rs1060500335(-;-)
Alt rs1060500335(-;-)
Reference Rs1060500335(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29677252delG
CLNSRC
CLNACC RCV000472399.1,