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rs1060500308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500308(C;T)
Make rs1060500308(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31235665
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500308
dbSNP (classic)rs1060500308
ClinGenrs1060500308
ebirs1060500308
HLIrs1060500308
Exacrs1060500308
Gnomadrs1060500308
Varsomers1060500308
LitVarrs1060500308
Maprs1060500308
PheGenIrs1060500308
Biobankrs1060500308
1000 genomesrs1060500308
hgdprs1060500308
ensemblrs1060500308
geneviewrs1060500308
scholarrs1060500308
googlers1060500308
pharmgkbrs1060500308
gwascentralrs1060500308
openSNPrs1060500308
23andMers1060500308
SNPshotrs1060500308
SNPdbers1060500308
MSV3drs1060500308
GWAS Ctlgrs1060500308
Max Magnitude0
ClinVar
Risk rs1060500308(T;T)
Alt rs1060500308(T;T)
Reference Rs1060500308(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29562683C>T
CLNSRC
CLNACC RCV000459390.1,