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rs1060500276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAT;AAT) 0 common in clinvar
Make rs1060500276(-;-)
Make rs1060500276(-;AAT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31233144
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500276
dbSNP (classic)rs1060500276
ClinGenrs1060500276
ebirs1060500276
HLIrs1060500276
Exacrs1060500276
Gnomadrs1060500276
Varsomers1060500276
LitVarrs1060500276
Maprs1060500276
PheGenIrs1060500276
Biobankrs1060500276
1000 genomesrs1060500276
hgdprs1060500276
ensemblrs1060500276
geneviewrs1060500276
scholarrs1060500276
googlers1060500276
pharmgkbrs1060500276
gwascentralrs1060500276
openSNPrs1060500276
23andMers1060500276
SNPshotrs1060500276
SNPdbers1060500276
MSV3drs1060500276
GWAS Ctlgrs1060500276
Max Magnitude0
ClinVar
Risk rs1060500276(-;-)
Alt rs1060500276(-;-)
Reference Rs1060500276(AAT;AAT)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29560162_29560164delAAT
CLNSRC
CLNACC RCV000467306.1,