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rs1060500346

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500346(G;T)
Make rs1060500346(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31235614
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500346
dbSNP (old)rs1060500346
ClinGenrs1060500346
ebirs1060500346
HLIrs1060500346
Exacrs1060500346
Gnomadrs1060500346
Varsomers1060500346
Maprs1060500346
PheGenIrs1060500346
Biobankrs1060500346
1000 genomesrs1060500346
hgdprs1060500346
ensemblrs1060500346
gopubmedrs1060500346
geneviewrs1060500346
scholarrs1060500346
googlers1060500346
pharmgkbrs1060500346
gwascentralrs1060500346
openSNPrs1060500346
23andMers1060500346
23andMe allrs1060500346
SNPshotrs1060500346
SNPdbers1060500346
MSV3drs1060500346
GWAS Ctlgrs1060500346
Max Magnitude0
ClinVar
Risk rs1060500346(T;T)
Alt rs1060500346(T;T)
Reference Rs1060500346(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29562632G>T
CLNSRC
CLNACC RCV000469700.1,