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rs199474746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474746(A;A)
Make rs199474746(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31227536
GeneNF1
is asnp
is mentioned by
dbSNPrs199474746
dbSNP (old)rs199474746
ClinGenrs199474746
ebirs199474746
HLIrs199474746
Exacrs199474746
Gnomadrs199474746
Varsomers199474746
Maprs199474746
PheGenIrs199474746
Biobankrs199474746
1000 genomesrs199474746
hgdprs199474746
ensemblrs199474746
gopubmedrs199474746
geneviewrs199474746
scholarrs199474746
googlers199474746
pharmgkbrs199474746
gwascentralrs199474746
openSNPrs199474746
23andMers199474746
23andMe allrs199474746
SNPshotrs199474746
SNPdbers199474746
MSV3drs199474746
GWAS Ctlgrs199474746
Max Magnitude0
ClinVar
Risk rs199474746(A;A)
Alt rs199474746(A;A)
Reference Rs199474746(C;C)
Significance Pathogenic
Disease not provided Neurofibromatosis
Variation info
Gene NF1
CLNDBN not provided Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29554554C>A
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059168.1, RCV000468694.1,