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rs864622509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5.5 Neurofibromatosis type 1
Make rs864622509(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position31340503
GeneNF1
is asnp
is mentioned by
dbSNPrs864622509
dbSNP (classic)rs864622509
ClinGenrs864622509
ebirs864622509
HLIrs864622509
Exacrs864622509
Gnomadrs864622509
Varsomers864622509
LitVarrs864622509
Maprs864622509
PheGenIrs864622509
Biobankrs864622509
1000 genomesrs864622509
hgdprs864622509
ensemblrs864622509
geneviewrs864622509
scholarrs864622509
googlers864622509
pharmgkbrs864622509
gwascentralrs864622509
openSNPrs864622509
23andMers864622509
SNPshotrs864622509
SNPdbers864622509
MSV3drs864622509
GWAS Ctlgrs864622509
Max Magnitude5.5

aka c.6859-2A>G

23andMe name: i723194

ClinVar
Risk rs864622509(G;G)
Alt rs864622509(G;G)
Reference Rs864622509(A;A)
Significance Probable-Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29667521A>G
CLNSRC
CLNACC RCV000205966.1,