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rs1060500363

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500363(C;T)
Make rs1060500363(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31156001
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500363
dbSNP (old)rs1060500363
ClinGenrs1060500363
ebirs1060500363
HLIrs1060500363
Exacrs1060500363
Gnomadrs1060500363
Varsomers1060500363
Maprs1060500363
PheGenIrs1060500363
Biobankrs1060500363
1000 genomesrs1060500363
hgdprs1060500363
ensemblrs1060500363
gopubmedrs1060500363
geneviewrs1060500363
scholarrs1060500363
googlers1060500363
pharmgkbrs1060500363
gwascentralrs1060500363
openSNPrs1060500363
23andMers1060500363
23andMe allrs1060500363
SNPshotrs1060500363
SNPdbers1060500363
MSV3drs1060500363
GWAS Ctlgrs1060500363
Max Magnitude0
ClinVar
Risk rs1060500363(T;T)
Alt rs1060500363(T;T)
Reference Rs1060500363(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29483019C>T
CLNSRC
CLNACC RCV000469252.1,