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rs1060500378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500378(C;C)
Make rs1060500378(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31330336
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500378
dbSNP (old)rs1060500378
ClinGenrs1060500378
ebirs1060500378
HLIrs1060500378
Exacrs1060500378
Gnomadrs1060500378
Varsomers1060500378
Maprs1060500378
PheGenIrs1060500378
Biobankrs1060500378
1000 genomesrs1060500378
hgdprs1060500378
ensemblrs1060500378
gopubmedrs1060500378
geneviewrs1060500378
scholarrs1060500378
googlers1060500378
pharmgkbrs1060500378
gwascentralrs1060500378
openSNPrs1060500378
23andMers1060500378
23andMe allrs1060500378
SNPshotrs1060500378
SNPdbers1060500378
MSV3drs1060500378
GWAS Ctlgrs1060500378
Max Magnitude0
ClinVar
Risk rs1060500378(C;C)
Alt rs1060500378(C;C)
Reference Rs1060500378(T;T)
Significance Probable-Pathogenic
Disease Neurofibromatosis Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29657354T>C; NC_000017.10:g.29657354T>G
CLNSRC
CLNACC RCV000463606.1, RCV000492298.1,