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rs199474742

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474742(C;G)
Make rs199474742(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position31235728
GeneNF1
is asnp
is mentioned by
dbSNPrs199474742
ebirs199474742
HLIrs199474742
Exacrs199474742
Varsomers199474742
Maprs199474742
PheGenIrs199474742
hapmaprs199474742
1000 genomesrs199474742
hgdprs199474742
ensemblrs199474742
gopubmedrs199474742
geneviewrs199474742
scholarrs199474742
googlers199474742
pharmgkbrs199474742
gwascentralrs199474742
openSNPrs199474742
23andMers199474742
23andMe allrs199474742
SNP Nexus

SNPshotrs199474742
SNPdbers199474742
MSV3drs199474742
GWAS Ctlgrs199474742
Max Magnitude0
ClinVar
Risk rs199474742(G,T;G,T)
Alt rs199474742(G,T;G,T)
Reference rs199474742(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.29562746C>G; NC_000017.10:g.29562746C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059192.1, RCV000233439.1, RCV000227284.1, RCV000238903.1,