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rs199474785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5.5 Neurofibromatosis type 1
Make rs199474785(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31229145
GeneNF1
is asnp
is mentioned by
dbSNPrs199474785
dbSNP (classic)rs199474785
ClinGenrs199474785
ebirs199474785
HLIrs199474785
Exacrs199474785
Gnomadrs199474785
Varsomers199474785
LitVarrs199474785
Maprs199474785
PheGenIrs199474785
Biobankrs199474785
1000 genomesrs199474785
hgdprs199474785
ensemblrs199474785
geneviewrs199474785
scholarrs199474785
googlers199474785
pharmgkbrs199474785
gwascentralrs199474785
openSNPrs199474785
23andMers199474785
SNPshotrs199474785
SNPdbers199474785
MSV3drs199474785
GWAS Ctlgrs199474785
Max Magnitude5.5

aka c.2530C>T, p.Leu844Phe and L844F

see NF1