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rs1060500349

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500349(-;-)
Make rs1060500349(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31334950
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500349
dbSNP (old)rs1060500349
ClinGenrs1060500349
ebirs1060500349
HLIrs1060500349
Exacrs1060500349
Gnomadrs1060500349
Varsomers1060500349
Maprs1060500349
PheGenIrs1060500349
Biobankrs1060500349
1000 genomesrs1060500349
hgdprs1060500349
ensemblrs1060500349
gopubmedrs1060500349
geneviewrs1060500349
scholarrs1060500349
googlers1060500349
pharmgkbrs1060500349
gwascentralrs1060500349
openSNPrs1060500349
23andMers1060500349
23andMe allrs1060500349
SNPshotrs1060500349
SNPdbers1060500349
MSV3drs1060500349
GWAS Ctlgrs1060500349
Max Magnitude0
ClinVar
Risk rs1060500349(-;-)
Alt rs1060500349(-;-)
Reference Rs1060500349(T;T)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29661968delT
CLNSRC
CLNACC RCV000472691.1,