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rs1060500345

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500345(G;T)
Make rs1060500345(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31337583
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500345
dbSNP (old)rs1060500345
ClinGenrs1060500345
ebirs1060500345
HLIrs1060500345
Exacrs1060500345
Gnomadrs1060500345
Varsomers1060500345
Maprs1060500345
PheGenIrs1060500345
Biobankrs1060500345
1000 genomesrs1060500345
hgdprs1060500345
ensemblrs1060500345
gopubmedrs1060500345
geneviewrs1060500345
scholarrs1060500345
googlers1060500345
pharmgkbrs1060500345
gwascentralrs1060500345
openSNPrs1060500345
23andMers1060500345
23andMe allrs1060500345
SNPshotrs1060500345
SNPdbers1060500345
MSV3drs1060500345
GWAS Ctlgrs1060500345
Max Magnitude0
ClinVar
Risk rs1060500345(T;T)
Alt rs1060500345(T;T)
Reference Rs1060500345(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29664601G>T
CLNSRC
CLNACC RCV000458814.1,