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rs1060500319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500319(A;A)
Make rs1060500319(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31248995
GeneNF1
is asnp
is mentioned by
dbSNPrs1060500319
dbSNP (classic)rs1060500319
ClinGenrs1060500319
ebirs1060500319
HLIrs1060500319
Exacrs1060500319
Gnomadrs1060500319
Varsomers1060500319
LitVarrs1060500319
Maprs1060500319
PheGenIrs1060500319
Biobankrs1060500319
1000 genomesrs1060500319
hgdprs1060500319
ensemblrs1060500319
geneviewrs1060500319
scholarrs1060500319
googlers1060500319
pharmgkbrs1060500319
gwascentralrs1060500319
openSNPrs1060500319
23andMers1060500319
SNPshotrs1060500319
SNPdbers1060500319
MSV3drs1060500319
GWAS Ctlgrs1060500319
Max Magnitude0
ClinVar
Risk rs1060500319(A;A)
Alt rs1060500319(A;A)
Reference Rs1060500319(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29576013C>A
CLNSRC
CLNACC RCV000467614.1,