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rs1060500353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500353(-;-)
Make rs1060500353(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31330385
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500353
dbSNP (classic)rs1060500353
ClinGenrs1060500353
ebirs1060500353
HLIrs1060500353
Exacrs1060500353
Gnomadrs1060500353
Varsomers1060500353
LitVarrs1060500353
Maprs1060500353
PheGenIrs1060500353
Biobankrs1060500353
1000 genomesrs1060500353
hgdprs1060500353
ensemblrs1060500353
geneviewrs1060500353
scholarrs1060500353
googlers1060500353
pharmgkbrs1060500353
gwascentralrs1060500353
openSNPrs1060500353
23andMers1060500353
SNPshotrs1060500353
SNPdbers1060500353
MSV3drs1060500353
GWAS Ctlgrs1060500353
Max Magnitude0
ClinVar
Risk rs1060500353(-;-)
Alt rs1060500353(-;-)
Reference Rs1060500353(T;T)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29657403delT
CLNSRC
CLNACC RCV000477528.1,