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rs1060500370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500370(G;T)
Make rs1060500370(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31248983
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500370
dbSNP (classic)rs1060500370
ClinGenrs1060500370
ebirs1060500370
HLIrs1060500370
Exacrs1060500370
Gnomadrs1060500370
Varsomers1060500370
LitVarrs1060500370
Maprs1060500370
PheGenIrs1060500370
Biobankrs1060500370
1000 genomesrs1060500370
hgdprs1060500370
ensemblrs1060500370
geneviewrs1060500370
scholarrs1060500370
googlers1060500370
pharmgkbrs1060500370
gwascentralrs1060500370
openSNPrs1060500370
23andMers1060500370
SNPshotrs1060500370
SNPdbers1060500370
MSV3drs1060500370
GWAS Ctlgrs1060500370
Max Magnitude0
ClinVar
Risk rs1060500370(T;T)
Alt rs1060500370(T;T)
Reference Rs1060500370(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29576001G>T
CLNSRC
CLNACC RCV000465093.1,