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rs1060500376

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500376(A;A)
Make rs1060500376(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31337881
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500376
dbSNP (old)rs1060500376
ClinGenrs1060500376
ebirs1060500376
HLIrs1060500376
Exacrs1060500376
Gnomadrs1060500376
Varsomers1060500376
Maprs1060500376
PheGenIrs1060500376
Biobankrs1060500376
1000 genomesrs1060500376
hgdprs1060500376
ensemblrs1060500376
gopubmedrs1060500376
geneviewrs1060500376
scholarrs1060500376
googlers1060500376
pharmgkbrs1060500376
gwascentralrs1060500376
openSNPrs1060500376
23andMers1060500376
23andMe allrs1060500376
SNPshotrs1060500376
SNPdbers1060500376
MSV3drs1060500376
GWAS Ctlgrs1060500376
Max Magnitude0
ClinVar
Risk rs1060500376(A;A)
Alt rs1060500376(A;A)
Reference Rs1060500376(G;G)
Significance 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.29664899G>A
CLNSRC
CLNACC RCV000462046.1, RCV000492264.1,