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rs1060500296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500296(A;A)
Make rs1060500296(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31336474
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500296
dbSNP (classic)rs1060500296
ClinGenrs1060500296
ebirs1060500296
HLIrs1060500296
Exacrs1060500296
Gnomadrs1060500296
Varsomers1060500296
LitVarrs1060500296
Maprs1060500296
PheGenIrs1060500296
Biobankrs1060500296
1000 genomesrs1060500296
hgdprs1060500296
ensemblrs1060500296
geneviewrs1060500296
scholarrs1060500296
googlers1060500296
pharmgkbrs1060500296
gwascentralrs1060500296
openSNPrs1060500296
23andMers1060500296
SNPshotrs1060500296
SNPdbers1060500296
MSV3drs1060500296
GWAS Ctlgrs1060500296
Max Magnitude0
ClinVar
Risk rs1060500296(A;A)
Alt rs1060500296(A;A)
Reference Rs1060500296(G;G)
Significance Pathogenic
Disease Neurofibromatosis Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29663492G>A
CLNSRC
CLNACC RCV000461628.1, RCV000492241.1,