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rs1060500273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500273(A;A)
Make rs1060500273(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31230259
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500273
dbSNP (classic)rs1060500273
ClinGenrs1060500273
ebirs1060500273
HLIrs1060500273
Exacrs1060500273
Gnomadrs1060500273
Varsomers1060500273
LitVarrs1060500273
Maprs1060500273
PheGenIrs1060500273
Biobankrs1060500273
1000 genomesrs1060500273
hgdprs1060500273
ensemblrs1060500273
geneviewrs1060500273
scholarrs1060500273
googlers1060500273
pharmgkbrs1060500273
gwascentralrs1060500273
openSNPrs1060500273
23andMers1060500273
SNPshotrs1060500273
SNPdbers1060500273
MSV3drs1060500273
GWAS Ctlgrs1060500273
Max Magnitude0
ClinVar
Risk rs1060500273(A;A)
Alt rs1060500273(A;A)
Reference Rs1060500273(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29557277G>A
CLNSRC
CLNACC RCV000458745.1,