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rs786204253

From SNPedia

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


Make rs786204253(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position31233005
GeneNF1
is asnp
is mentioned by
dbSNPrs786204253
dbSNP (classic)rs786204253
ClinGenrs786204253
ebirs786204253
HLIrs786204253
Exacrs786204253
Gnomadrs786204253
Varsomers786204253
LitVarrs786204253
Maprs786204253
PheGenIrs786204253
Biobankrs786204253
1000 genomesrs786204253
hgdprs786204253
ensemblrs786204253
geneviewrs786204253
scholarrs786204253
googlers786204253
pharmgkbrs786204253
gwascentralrs786204253
openSNPrs786204253
23andMers786204253
SNPshotrs786204253
SNPdbers786204253
MSV3drs786204253
GWAS Ctlgrs786204253
Max Magnitude5.5
ClinVar
Risk rs786204253(G;G)
Alt rs786204253(G;G)
Reference Rs786204253(T;T)
Significance Pathogenic
Disease Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29560023T>G
CLNSRC
CLNACC RCV000168456.1,