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rs587781747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 5.5 Neurofibromatosis type 1
(T;T) 0 common in clinvar


Make rs587781747(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position31229124
GeneNF1
is asnp
is mentioned by
dbSNPrs587781747
dbSNP (classic)rs587781747
ClinGenrs587781747
ebirs587781747
HLIrs587781747
Exacrs587781747
Gnomadrs587781747
Varsomers587781747
LitVarrs587781747
Maprs587781747
PheGenIrs587781747
Biobankrs587781747
1000 genomesrs587781747
hgdprs587781747
ensemblrs587781747
geneviewrs587781747
scholarrs587781747
googlers587781747
pharmgkbrs587781747
gwascentralrs587781747
openSNPrs587781747
23andMers587781747
SNPshotrs587781747
SNPdbers587781747
MSV3drs587781747
GWAS Ctlgrs587781747
Max Magnitude5.5
ClinVar
Risk rs587781747(A;A)
Alt rs587781747(A;A)
Reference Rs587781747(T;T)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29556142T>A
CLNSRC
CLNACC RCV000129953.2,