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rs587781517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5.5 Neurofibromatosis type 1
(C;G) 5.5 Neurofibromatosis type 1
(G;G) 0 common in clinvar
(G;T) 5.5 Neurofibromatosis type 1
Make rs587781517(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position31200421
GeneNF1
is asnp
is mentioned by
dbSNPrs587781517
dbSNP (classic)rs587781517
ClinGenrs587781517
ebirs587781517
HLIrs587781517
Exacrs587781517
Gnomadrs587781517
Varsomers587781517
LitVarrs587781517
Maprs587781517
PheGenIrs587781517
Biobankrs587781517
1000 genomesrs587781517
hgdprs587781517
ensemblrs587781517
geneviewrs587781517
scholarrs587781517
googlers587781517
pharmgkbrs587781517
gwascentralrs587781517
openSNPrs587781517
23andMers587781517
SNPshotrs587781517
SNPdbers587781517
MSV3drs587781517
GWAS Ctlgrs587781517
Max Magnitude5.5
ClinVar
Risk rs587781517(T;T)
Alt rs587781517(T;T)
Reference Rs587781517(G;G)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29527439G>T
CLNSRC
CLNACC RCV000129503.2,