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rs1060500368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500368(C;C)
Make rs1060500368(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31229157
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500368
dbSNP (classic)rs1060500368
ClinGenrs1060500368
ebirs1060500368
HLIrs1060500368
Exacrs1060500368
Gnomadrs1060500368
Varsomers1060500368
LitVarrs1060500368
Maprs1060500368
PheGenIrs1060500368
Biobankrs1060500368
1000 genomesrs1060500368
hgdprs1060500368
ensemblrs1060500368
geneviewrs1060500368
scholarrs1060500368
googlers1060500368
pharmgkbrs1060500368
gwascentralrs1060500368
openSNPrs1060500368
23andMers1060500368
23andMe allrs1060500368
SNPshotrs1060500368
SNPdbers1060500368
MSV3drs1060500368
GWAS Ctlgrs1060500368
Max Magnitude0
ClinVar
Risk rs1060500368(C;C)
Alt rs1060500368(C;C)
Reference Rs1060500368(G;G)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29556175G>C
CLNSRC
CLNACC RCV000470292.1,