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rs1060500347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500347(-;-)
Make rs1060500347(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31206372
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500347
dbSNP (classic)rs1060500347
ClinGenrs1060500347
ebirs1060500347
HLIrs1060500347
Exacrs1060500347
Gnomadrs1060500347
Varsomers1060500347
LitVarrs1060500347
Maprs1060500347
PheGenIrs1060500347
Biobankrs1060500347
1000 genomesrs1060500347
hgdprs1060500347
ensemblrs1060500347
geneviewrs1060500347
scholarrs1060500347
googlers1060500347
pharmgkbrs1060500347
gwascentralrs1060500347
openSNPrs1060500347
23andMers1060500347
23andMe allrs1060500347
SNPshotrs1060500347
SNPdbers1060500347
MSV3drs1060500347
GWAS Ctlgrs1060500347
Max Magnitude0
ClinVar
Risk rs1060500347(-;-)
Alt rs1060500347(-;-)
Reference Rs1060500347(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29533390delG
CLNSRC
CLNACC RCV000457531.1,