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rs1060500242

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500242(C;T)
Make rs1060500242(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31260496
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500242
dbSNP (old)rs1060500242
ClinGenrs1060500242
ebirs1060500242
HLIrs1060500242
Exacrs1060500242
Gnomadrs1060500242
Varsomers1060500242
Maprs1060500242
PheGenIrs1060500242
Biobankrs1060500242
1000 genomesrs1060500242
hgdprs1060500242
ensemblrs1060500242
gopubmedrs1060500242
geneviewrs1060500242
scholarrs1060500242
googlers1060500242
pharmgkbrs1060500242
gwascentralrs1060500242
openSNPrs1060500242
23andMers1060500242
23andMe allrs1060500242
SNPshotrs1060500242
SNPdbers1060500242
MSV3drs1060500242
GWAS Ctlgrs1060500242
Max Magnitude0
ClinVar
Risk rs1060500242(T;T)
Alt rs1060500242(T;T)
Reference Rs1060500242(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29587514C>T
CLNSRC
CLNACC RCV000463317.1,