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rs1060500356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500356(C;C)
Make rs1060500356(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31338024
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500356
dbSNP (classic)rs1060500356
ClinGenrs1060500356
ebirs1060500356
HLIrs1060500356
Exacrs1060500356
Gnomadrs1060500356
Varsomers1060500356
LitVarrs1060500356
Maprs1060500356
PheGenIrs1060500356
Biobankrs1060500356
1000 genomesrs1060500356
hgdprs1060500356
ensemblrs1060500356
geneviewrs1060500356
scholarrs1060500356
googlers1060500356
pharmgkbrs1060500356
gwascentralrs1060500356
openSNPrs1060500356
23andMers1060500356
SNPshotrs1060500356
SNPdbers1060500356
MSV3drs1060500356
GWAS Ctlgrs1060500356
Max Magnitude0
ClinVar
Risk rs1060500356(C;C)
Alt rs1060500356(C;C)
Reference Rs1060500356(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29665042G>C
CLNSRC
CLNACC RCV000457846.1,