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rs267606596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 5.5 Neurofibromatosis type 1
Make rs267606596(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position31327741
GeneNF1
is asnp
is mentioned by
dbSNPrs267606596
dbSNP (classic)rs267606596
ClinGenrs267606596
ebirs267606596
HLIrs267606596
Exacrs267606596
Gnomadrs267606596
Varsomers267606596
LitVarrs267606596
Maprs267606596
PheGenIrs267606596
Biobankrs267606596
1000 genomesrs267606596
hgdprs267606596
ensemblrs267606596
geneviewrs267606596
scholarrs267606596
googlers267606596
pharmgkbrs267606596
gwascentralrs267606596
openSNPrs267606596
23andMers267606596
SNPshotrs267606596
SNPdbers267606596
MSV3drs267606596
GWAS Ctlgrs267606596
Max Magnitude5.5
ClinVar
Risk rs267606596(C;C)
Alt rs267606596(C;C)
Reference Rs267606596(-;-)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29654759dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000365.3,