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rs1060500320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060500320(-;-)
Make rs1060500320(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31156021
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500320
dbSNP (classic)rs1060500320
ClinGenrs1060500320
ebirs1060500320
HLIrs1060500320
Exacrs1060500320
Gnomadrs1060500320
Varsomers1060500320
LitVarrs1060500320
Maprs1060500320
PheGenIrs1060500320
Biobankrs1060500320
1000 genomesrs1060500320
hgdprs1060500320
ensemblrs1060500320
geneviewrs1060500320
scholarrs1060500320
googlers1060500320
pharmgkbrs1060500320
gwascentralrs1060500320
openSNPrs1060500320
23andMers1060500320
SNPshotrs1060500320
SNPdbers1060500320
MSV3drs1060500320
GWAS Ctlgrs1060500320
Max Magnitude0
ClinVar
Risk rs1060500320(-;-)
Alt rs1060500320(-;-)
Reference Rs1060500320(A;A)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29483039delA
CLNSRC
CLNACC RCV000464003.1,