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rs1060500268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500268(-;-)
Make rs1060500268(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31337875
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500268
dbSNP (classic)rs1060500268
ClinGenrs1060500268
ebirs1060500268
HLIrs1060500268
Exacrs1060500268
Gnomadrs1060500268
Varsomers1060500268
LitVarrs1060500268
Maprs1060500268
PheGenIrs1060500268
Biobankrs1060500268
1000 genomesrs1060500268
hgdprs1060500268
ensemblrs1060500268
geneviewrs1060500268
scholarrs1060500268
googlers1060500268
pharmgkbrs1060500268
gwascentralrs1060500268
openSNPrs1060500268
23andMers1060500268
SNPshotrs1060500268
SNPdbers1060500268
MSV3drs1060500268
GWAS Ctlgrs1060500268
Max Magnitude0
ClinVar
Risk rs1060500268(-;-)
Alt rs1060500268(-;-)
Reference Rs1060500268(T;T)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29664893delT
CLNSRC
CLNACC RCV000459163.1,