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rs1060500364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500364(-;-)
Make rs1060500364(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31226504
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500364
dbSNP (classic)rs1060500364
ClinGenrs1060500364
ebirs1060500364
HLIrs1060500364
Exacrs1060500364
Gnomadrs1060500364
Varsomers1060500364
LitVarrs1060500364
Maprs1060500364
PheGenIrs1060500364
Biobankrs1060500364
1000 genomesrs1060500364
hgdprs1060500364
ensemblrs1060500364
geneviewrs1060500364
scholarrs1060500364
googlers1060500364
pharmgkbrs1060500364
gwascentralrs1060500364
openSNPrs1060500364
23andMers1060500364
SNPshotrs1060500364
SNPdbers1060500364
MSV3drs1060500364
GWAS Ctlgrs1060500364
Max Magnitude0
ClinVar
Risk rs1060500364(-;-)
Alt rs1060500364(-;-)
Reference Rs1060500364(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29553522delC
CLNSRC
CLNACC RCV000477103.1,