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rs1060500300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060500300(-;-)
Make rs1060500300(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31349250
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500300
dbSNP (classic)rs1060500300
ClinGenrs1060500300
ebirs1060500300
HLIrs1060500300
Exacrs1060500300
Gnomadrs1060500300
Varsomers1060500300
LitVarrs1060500300
Maprs1060500300
PheGenIrs1060500300
Biobankrs1060500300
1000 genomesrs1060500300
hgdprs1060500300
ensemblrs1060500300
geneviewrs1060500300
scholarrs1060500300
googlers1060500300
pharmgkbrs1060500300
gwascentralrs1060500300
openSNPrs1060500300
23andMers1060500300
SNPshotrs1060500300
SNPdbers1060500300
MSV3drs1060500300
GWAS Ctlgrs1060500300
Max Magnitude0
ClinVar
Risk rs1060500300(-;-)
Alt rs1060500300(-;-)
Reference Rs1060500300(A;A)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29676268delA
CLNSRC
CLNACC RCV000472352.1,