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rs1060500274

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500274(C;C)
Make rs1060500274(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31181786
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500274
dbSNP (old)rs1060500274
ClinGenrs1060500274
ebirs1060500274
HLIrs1060500274
Exacrs1060500274
Gnomadrs1060500274
Varsomers1060500274
Maprs1060500274
PheGenIrs1060500274
Biobankrs1060500274
1000 genomesrs1060500274
hgdprs1060500274
ensemblrs1060500274
gopubmedrs1060500274
geneviewrs1060500274
scholarrs1060500274
googlers1060500274
pharmgkbrs1060500274
gwascentralrs1060500274
openSNPrs1060500274
23andMers1060500274
23andMe allrs1060500274
SNPshotrs1060500274
SNPdbers1060500274
MSV3drs1060500274
GWAS Ctlgrs1060500274
Max Magnitude0
ClinVar
Risk rs1060500274(C;C)
Alt rs1060500274(C;C)
Reference Rs1060500274(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29508804G>C
CLNSRC
CLNACC RCV000472003.1,