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rs1060500312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060500312(A;G)
Make rs1060500312(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31337366
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500312
dbSNP (classic)rs1060500312
ClinGenrs1060500312
ebirs1060500312
HLIrs1060500312
Exacrs1060500312
Gnomadrs1060500312
Varsomers1060500312
LitVarrs1060500312
Maprs1060500312
PheGenIrs1060500312
Biobankrs1060500312
1000 genomesrs1060500312
hgdprs1060500312
ensemblrs1060500312
geneviewrs1060500312
scholarrs1060500312
googlers1060500312
pharmgkbrs1060500312
gwascentralrs1060500312
openSNPrs1060500312
23andMers1060500312
23andMe allrs1060500312
SNPshotrs1060500312
SNPdbers1060500312
MSV3drs1060500312
GWAS Ctlgrs1060500312
Max Magnitude0
ClinVar
Risk rs1060500312(G;G)
Alt rs1060500312(G;G)
Reference Rs1060500312(A;A)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29664384A>G
CLNSRC
CLNACC RCV000462301.1,