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rs1060500284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500284(A;A)
Make rs1060500284(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31170002
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500284
dbSNP (classic)rs1060500284
ClinGenrs1060500284
ebirs1060500284
HLIrs1060500284
Exacrs1060500284
Gnomadrs1060500284
Varsomers1060500284
LitVarrs1060500284
Maprs1060500284
PheGenIrs1060500284
Biobankrs1060500284
1000 genomesrs1060500284
hgdprs1060500284
ensemblrs1060500284
geneviewrs1060500284
scholarrs1060500284
googlers1060500284
pharmgkbrs1060500284
gwascentralrs1060500284
openSNPrs1060500284
23andMers1060500284
SNPshotrs1060500284
SNPdbers1060500284
MSV3drs1060500284
GWAS Ctlgrs1060500284
Max Magnitude0
ClinVar
Risk rs1060500284(A;A)
Alt rs1060500284(A;A)
Reference Rs1060500284(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29497020G>A
CLNSRC
CLNACC RCV000472016.1,