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rs786202457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.5 Neurofibromatosis type 1
Make rs786202457(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position31350209
GeneNF1
is asnp
is mentioned by
dbSNPrs786202457
dbSNP (classic)rs786202457
ClinGenrs786202457
ebirs786202457
HLIrs786202457
Exacrs786202457
Gnomadrs786202457
Varsomers786202457
LitVarrs786202457
Maprs786202457
PheGenIrs786202457
Biobankrs786202457
1000 genomesrs786202457
hgdprs786202457
ensemblrs786202457
geneviewrs786202457
scholarrs786202457
googlers786202457
pharmgkbrs786202457
gwascentralrs786202457
openSNPrs786202457
23andMers786202457
SNPshotrs786202457
SNPdbers786202457
MSV3drs786202457
GWAS Ctlgrs786202457
Max Magnitude5.5
ClinVar
Risk rs786202457(T;T)
Alt rs786202457(T;T)
Reference Rs786202457(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Lisch nodules Subcutaneous neurofibromas
Variation info
Gene NF1
CLNDBN Hereditary cancer-predisposing syndrome not provided Lisch nodules Subcutaneous neurofibromas
Reversed 0
HGVS NC_000017.10:g.29677227C>T
CLNSRC
CLNACC RCV000165277.1, RCV000414562.1, RCV000414830.1,