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rs797045139

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045139(C;T)
Make rs797045139(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position31327718
GeneNF1
is asnp
is mentioned by
dbSNPrs797045139
ebirs797045139
HLIrs797045139
Exacrs797045139
Varsomers797045139
Maprs797045139
PheGenIrs797045139
hapmaprs797045139
1000 genomesrs797045139
hgdprs797045139
ensemblrs797045139
gopubmedrs797045139
geneviewrs797045139
scholarrs797045139
googlers797045139
pharmgkbrs797045139
gwascentralrs797045139
openSNPrs797045139
23andMers797045139
23andMe allrs797045139
SNP Nexus

SNPshotrs797045139
SNPdbers797045139
MSV3drs797045139
GWAS Ctlgrs797045139
Max Magnitude0
ClinVar
Risk rs797045139(A,G,T;A,G,T)
Alt rs797045139(A,G,T;A,G,T)
Reference rs797045139(C;C)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29654736C>A; NC_000017.10:g.29654736C>G; NC_000017.10:g.29654736C>T
CLNSRC
CLNACC RCV000190892.1, RCV000190893.1, RCV000190889.1,