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rs1060500323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGG;TGG) 0 common in clinvar
Make rs1060500323(-;-)
Make rs1060500323(-;TGG)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31182535
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500323
dbSNP (classic)rs1060500323
ClinGenrs1060500323
ebirs1060500323
HLIrs1060500323
Exacrs1060500323
Gnomadrs1060500323
Varsomers1060500323
LitVarrs1060500323
Maprs1060500323
PheGenIrs1060500323
Biobankrs1060500323
1000 genomesrs1060500323
hgdprs1060500323
ensemblrs1060500323
geneviewrs1060500323
scholarrs1060500323
googlers1060500323
pharmgkbrs1060500323
gwascentralrs1060500323
openSNPrs1060500323
23andMers1060500323
SNPshotrs1060500323
SNPdbers1060500323
MSV3drs1060500323
GWAS Ctlgrs1060500323
Max Magnitude0
ClinVar
Risk rs1060500323(-;-)
Alt rs1060500323(-;-)
Reference Rs1060500323(TGG;TGG)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29509553_29509555delTGG
CLNSRC
CLNACC RCV000469747.1,