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rs1060500266

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500266(C;C)
Make rs1060500266(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31338703
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500266
dbSNP (old)rs1060500266
ClinGenrs1060500266
ebirs1060500266
HLIrs1060500266
Exacrs1060500266
Gnomadrs1060500266
Varsomers1060500266
Maprs1060500266
PheGenIrs1060500266
Biobankrs1060500266
1000 genomesrs1060500266
hgdprs1060500266
ensemblrs1060500266
gopubmedrs1060500266
geneviewrs1060500266
scholarrs1060500266
googlers1060500266
pharmgkbrs1060500266
gwascentralrs1060500266
openSNPrs1060500266
23andMers1060500266
23andMe allrs1060500266
SNPshotrs1060500266
SNPdbers1060500266
MSV3drs1060500266
GWAS Ctlgrs1060500266
Max Magnitude0
ClinVar
Risk rs1060500266(C;C)
Alt rs1060500266(C;C)
Reference Rs1060500266(G;G)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29665721G>C
CLNSRC
CLNACC RCV000460069.1,