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rs1060500357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500357(C;T)
Make rs1060500357(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31229463
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500357
dbSNP (classic)rs1060500357
ClinGenrs1060500357
ebirs1060500357
HLIrs1060500357
Exacrs1060500357
Gnomadrs1060500357
Varsomers1060500357
LitVarrs1060500357
Maprs1060500357
PheGenIrs1060500357
Biobankrs1060500357
1000 genomesrs1060500357
hgdprs1060500357
ensemblrs1060500357
geneviewrs1060500357
scholarrs1060500357
googlers1060500357
pharmgkbrs1060500357
gwascentralrs1060500357
openSNPrs1060500357
23andMers1060500357
SNPshotrs1060500357
SNPdbers1060500357
MSV3drs1060500357
GWAS Ctlgrs1060500357
Max Magnitude0
ClinVar
Risk rs1060500357(T;T)
Alt rs1060500357(T;T)
Reference Rs1060500357(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29556481C>T
CLNSRC
CLNACC RCV000464458.1,