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rs199474789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474789(C;T)
Make rs199474789(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position31258401
GeneNF1
is asnp
is mentioned by
dbSNPrs199474789
ebirs199474789
HLIrs199474789
Exacrs199474789
Varsomers199474789
Maprs199474789
PheGenIrs199474789
hapmaprs199474789
1000 genomesrs199474789
hgdprs199474789
ensemblrs199474789
gopubmedrs199474789
geneviewrs199474789
scholarrs199474789
googlers199474789
pharmgkbrs199474789
gwascentralrs199474789
openSNPrs199474789
23andMers199474789
23andMe allrs199474789
SNP Nexus

SNPshotrs199474789
SNPdbers199474789
MSV3drs199474789
GWAS Ctlgrs199474789
Max Magnitude0
ClinVar
Risk rs199474789(T;T)
Alt rs199474789(T;T)
Reference rs199474789(C;C)
Significance Pathogenic
Disease Neurofibromatosis-Noonan syndrome not provided Neurofibromatosis
Variation info
Gene NF1
CLNDBN Neurofibromatosis-Noonan syndrome not provided Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29585419C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023983.4, RCV000059194.1, RCV000195735.2,


[PMID 19845691] Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.