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rs1060500295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500295(-;-)
Make rs1060500295(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31356545
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500295
dbSNP (classic)rs1060500295
ClinGenrs1060500295
ebirs1060500295
HLIrs1060500295
Exacrs1060500295
Gnomadrs1060500295
Varsomers1060500295
LitVarrs1060500295
Maprs1060500295
PheGenIrs1060500295
Biobankrs1060500295
1000 genomesrs1060500295
hgdprs1060500295
ensemblrs1060500295
geneviewrs1060500295
scholarrs1060500295
googlers1060500295
pharmgkbrs1060500295
gwascentralrs1060500295
openSNPrs1060500295
23andMers1060500295
SNPshotrs1060500295
SNPdbers1060500295
MSV3drs1060500295
GWAS Ctlgrs1060500295
Max Magnitude0
ClinVar
Risk rs1060500295(-;-)
Alt rs1060500295(-;-)
Reference Rs1060500295(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29683563delC
CLNSRC
CLNACC RCV000476564.1,